23rd wms congress – 2018 · s8 program / neuromuscular disorders 28 (2018) s7–s27 13:15-14:30...

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Neuromuscular Disorders 28 (2018) S7–S27 www.elsevier.com/locate/nmd

23rd WMS Congress – 2018 - Program

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2:30-16:00 WMS Executive Board Meeting – Room

4:00-18:00 Registration opens - Setting up of poste

6:00-18:00 Afternoon refreshments

8:00-18:45 Opening Ceremony – Auditorium

8:45-21:00 Networking Reception

ednesday 3 October 2018

8:00 Conference desk opens

8:30-09:00 Congress opening - Message from the P

9:00-10:30 Neuromuscular junction defects, InvitedChairpersons: Thomas Voit and Marcelo

I.1 Age-related neuromuscular junction insM. Ruegg; P. Castets; S. Lin; H. Brenne

I.2 New genes and better treatment for conD. Beeson

0:30-11:00 Morning refreshments, exhibition and p

1:00-11:45 Myasthenia gravis; Invited lecture (I.3) -Chairpersons: Gisèle Bonne and Bruno

I.3 From trial-and-error to trials without eJ. Verschuuren

1:45-13:15 Selected oral presentations I - New genChairpersons: Gisèle Bonne and Bruno

O.1 Recessive mutations in BET1 and GOSRcongenital muscular dystrophy with eS. Donkervoort ; Y. Hu; P. Shieh; J. KolBharucha-Goebel; S. Iannaccone; D. Ma

O.2 Mutations in fast skeletal troponin C ( TM. van de Locht ; J. Winter; S. Conijn; Quinn; O. Neto; S. Moore; A. Foley; N

O.3 A patient-derived iPSC model reveals thexpression in facioscapulohumeral muM. Sasaki-Honda ; T. Jonouchi; M. Arai

O.4 Single-cell RNA-sequencing in facioscapA. van den Heuvel ; A. Mahfouz; S. Klo

O.5 Association of phosphorylated neurofilafrom the ENDEAR and CHERISH stuB. Darras ; R. Finkel; E. Mercuri; C. SuFarwell

O.6 Free Mg2 + intramuscular concentrationoutcome measure in Duchenne muscuH. Reyngoudt; P. Carlier

ttps://doi.org/10.1016/j.nmd.2018.06.017 960-8966

an

ent Thomas Voit – Auditorium

res (I.1-2) iero

ty: causes and consequences Ham; M. Rich al myasthenic syndromes

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torium

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nctions and biomarkers (O.1-6) rd

ablish Q-SNARE Golgi-vesicle-transport genes as a cause for y L. Tsai; B. Cummings; M. Snyder; K. Chao; R. Kaur; D. ur; A. Foley; M. Schwake; C. Bönnemann 2 ) cause contractile dysfunction a; M. Helmes; T. Irving; S. Donkervoort; P. Mohassel; L. Medne; C. rmans; C. Bönnemann; C. Ottenheijm

notoxic stresses can be risk factors by increasing the causative DUX4 r dystrophy (FSHD) otta; S. Mitsuhashi; I. Nishino; R. Matsuda; H. Sakurai meral muscular dystrophy disease etiology and development Balog; B. van Engelen; R. Tawil; S. Tapscott; S. van der Maarel heavy chain (pNF-H) with nusinersen treatment of SMA: analyses

M. Oskoui; E. Tizzano; M. Ryan; G. Zhao; M. Petrillo; C. Stebbins; W.

rmined by combined 31P and 1H NMR spectroscopy as a potential ystrophy

http://www.sciencedirect.com

https://doi.org/10.1016/j.nmd.2018.06.017

http://www.elsevier.com/locate/nmd

https://doi.org/10.1016/j.nmd.2018.06.017

S8 Program / Neuromuscular Disorders 28 (2018) S7–S27

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13:15-14:30 Lunch, exhibition and posters

Sponsor Meeting – Room: Perdriel

14:30-16:00 Poster session 1: parallel sessions (P.1-97) –

Limb-girdle muscular dystrophy I (P.1-13Chairpersons: Bjarne Udd and Kevin Camp

P.1 Limb-girdle muscular dystrophy type 2L: cBrazilian cases A. Coimbra Neto ; T. Leoni; T. Rosa; C. Iw

P.2 ANO5 - Three different phenotypes and a L. Gonzalez-Quereda ; G. Garrabou; M. Rod

P.3 Phenotypic spectrum and muscle pathologyS. Luo ; S. Cai; M. Gao; J. Xi; Z. Liu; D. Y

P.4 Axial muscular affection in patients with LT. Khawajazada ; J. de Stricker Borch; K. R

P.5 Effect of MAPK Inhibition on the differentechnology: an in vitro model for the studN. De Luna; X. Suárez-Calvet; M. GaricanoE. Gallardo

P.6 Functional recovery by readthrough therapJ. Shin ; K. Seo; J. Park; D. Kim

P.7 Proteomic investigation of muscle-derived pH. Park ; Y. Choi

P.8 Clinical outcome study for dysferlinopathyM. James ; A. Mayhew; R. Muni Lofra; M. Maron; B. Mendez; I. Pedrosa Belmonte; CStraub

P.9 A comparison of the utility between three N. Miller ; L. Lowes; M. James; L. Alfano; Siener; S. Thiele; B. Mendez; A. Canal; C.

P.10 Imaging phenotype in dysferlinopathy and heatmaps and random forests D. Gómez-Andrés; J. Díaz; F. Munell; A. S

P.11 Clinical outcome study in dysferlinopathy: MRI and longitudinal functional outcomeJ. Diaz-Manera ; R. Fernández-Torron; M. JE. Salort-Campana; A. Pestronk; M. WalterMendell; K. Bushby; V. Straub

P.12 Clinical outcome study in dysferlinopathy: dysferlinopathy patients R. Fernandez-Torron; J. Diaz-Manera ; M. JSalort-Campana; A. Pestronk; M. Walter; CMendell; Jain Consortium; K. Bushby; V. S

P.13 Rasch analysis of the individualised neuromdysferlinopathy M. James ; A. Mayhew; M. Jacobs; S. SpuleWalter; C. Paradas; T. Stojkovic; M. Mori-YStraub

Duchenne muscular dystrophy - clinical (P.Chairpersons: Alberto Dubrovsky and Jiri V

P.14 The profile of Duchenne muscular dystrophA. Karaduman; I. Alemdaroglu Gürbüz; E.

P.15 First report of natural history and survivaretrospective cohort study P. Karachunski ; J. Dalton; R. Paulson; K. M

P.16 Epidemiology, clinical and genetic features C. Garrido ; F. Palavra; M. Cardoso; A. SouT. Moreno; M. Santos

P.17 Reasons for first visit to neurologists in ChL. Wang ; M. Xu; H. Li; C. Zhang

er area

l, neurophysiological, and imaging correlation in the first reported

archese; A. Martinez; A. Nucci; M. Franca Junior istological pattern

z; P. Gallano; A. Sanchez; J. Grau; J. Milisenda Chinese cohort with ANO5 recessive mutations . Lu; C. Zhao 2L

; J. Dahlqvist; J. Vissing of Rhabdomyosarcoma cell line TE671 combined with CRISPR/Cas9

human muscle diseases Fernández-Simón; R. Rojas-Garcia; J. Diaz-Manera; L. Querol; I. Illa;

a knock-in mouse model with nonsense dysferlin mutation

mic biomarkers of dysferlinopathy

e years of natural history data for clinical trial readiness s; A. Canal; T. Duong; R. Gee; M. Harman; S. Holsten; L. Lowes; E.

amoto; C. Semplicini; C. Siener; S. Thiele; B. Vandervelde; K. Bushby; V.

le strength assessment methods in dysferlinopathy ayhew; E. Maron; R. Gee; M. Harman; T. Duong; B. Vandervelde; C. moto; S. Holsten; I. Pedrosa Belmonte; C. Semplicini; V. Straub lationship with disease duration and disability are unravelled by

z-Montáñez; I. Pulido-Valdeolivas; L. Suazo; C. Garrido; J. Bevilacqua om forest approach to assess the relationship between baseline muscle sures A. Mayhew; M. Jacobs; S. Spuler; J. Day; K. Jones; D. Bharucha-Goebel;aradas; T. Stojkovic; M. Mori-Yoshimura; E. Bravver; E. Pegoraro; J.

cal comorbidities and polytherapy in a large population of

A. Mayhew; S. Spuler; J. Day; K. Jones; D. Bharucha-Goebel; E. das; T. Stojkovic; M. Mori-Yoshimura; E. Bravver; E. Pegoraro; J.

lar Quality of Life Questionnaire administered to patients with

Day; K. Jones; D. Bharucha-Goebel; E. Salort-Campana; A. Pestronk; M. ura; E. Bravver; J. Diaz Manera; E. Pegoraro; J. Mendell; K. Bushby; V.

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tients younger than 10 years old from KUKAS registry, Turkey Aslan; M. Güngör; N. Bulut; G. Aydin; Ö. Yilmaz; B. Talim; H. Topalogluatients with Duchenne muscular dystrophy in Zimbabwe: a

ll; Z. Mugugunyeki; R. Machaka; J. Pazorora chenne disease in Portugal: a multicentre retrospective study

. Rocha; D. Alves; M. Santos; M. Vila Real; J. Vieira; T. Coelho; I. Fineza;

patients with dystrophinopathy: a survey study

Program / Neuromuscular Disorders 28 (2018) S7–S27 S9

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P.18 The importance of nutrition in Duchenne mI. Verhaart ; M, Fiorotto; A. De Luca; S. WRoos; K. Kinnett; C. Saure; O. Dorchies; I.Kuijer; A. Aartsma-Rus; E. Vroom

P.19 Prevalence of metabolic disorders in patienC. Saure ; F. De Castro Perez; S. Monges; C

P.20 Cognitive performance in Duchenne muscuM. Miranda; A. Yaeko; C. Sá; L. Grossklau

P.21 Changes over years in the verbal IQ of patH. Arahata ; A. Miyoshi; A. Watanabe; Y. K

P.22 Evaluation of methylphenidate in males wihyperactivity disorder: a preliminary studD. Hellebrekers; J. Lionarons; S. Klinkenbe

P.23 Longitudinal follow-up of verbal working mD. Hellebrekers; N. Doorenweerd; D. Swee

P.24 Cognition and cerebral structural abnormaP. Tavares; G. Conte; S. Passos; T. Rezende

P.25 Circadian rhythms in young boys with DucR. Bendixen ; A. Kelleher; N. Little; M. Fel

P.27 Descriptive characteristics of males with DJ. Karafilidis ; O. Mayer; B. Griffin; K. Hig

P.28 The adult DMD patient. new challenges forA. Jáuregui; L. Mesa; J. Corderí; F. Chloca

P.29 Analysis of respiratory function of DuchenM. Ogasawara ; A. Ishiyama; E. Takeshita; Y

P.30 Guidance regarding use of implantable carN. Kertesz; A. Kamp; W. Thompson; A. BaMori-Yoshimura; L. Markham; L. Cripe

Duchenne muscular dystrophy - imaging anChairpersons: Lee Sweeney and Pierre Car

P.31 Serum creatinine: a promising biomarker fdystrophy in patients aged ≤ 3 Years L. Wang ; M. Chen; R. He; Y. Sun; J. Yang

P.32 Chemokine CXCL12 and osteopontin are hY. Maeda ; M. Ishizaki; Y. Nakajyo; Y. Yon

P.33 Skeletal muscle T1 mapping correlates withL. Souza; P. Tavares; S. Passos; C. Iwabe-M

P.34 MR biomarkers in imaging DMD clinical tS. Forbes ; R. Willcocks; W. Triplett; H. AroSweeney; G. Walter; K. Vandenborne

P.35 Higher MRI muscle fat fraction at similar dystrophy K. Naarding ; H. Reyngoudt; E. van Zwet; MCarlier; H. Kan; E. Niks

P.36 Early impact on disease identified for Ezutdystrophy A. Heatherington ; F. Muntoni; K. VandenboStudy Group

P.37 Upper extremity quantitative muscle ultrasdystrophy W. Stuij; M. Jansen; I. de Groot

P.38 Description of Becker muscular dystrophy from the first to third decades provides iT. Johnston ; K. Hor; M. Mah; L. Cripe

Congenital myopathies, general and RYR1 Chairpersons: Jorge Bevilacqua and Edmar

P.39 Congenital cytoplasmic body myopathy – aM. Schülke; W. Stenzel ; M. Schwarz; H. G

P.40 The distinct clinical phenotype of PIEZO2 D. Saade ; M. Lee; D. Bharucha-Goebel; S. Nickolls; A. Micheil Innes; J. Mah; C. GroChesler; C. Bönnemann

lar dystrophy . Quinlivian; Z. Davidson; L. van den Engel-Hoek; M. van Putten; N. de rts; M. Franken-Verbeek; F. De Angelis; N. Goemans; P. Furlong; J.

th Duchenne muscular dystrophy initi

ystrophy Favero; M. Voos with Duchenne muscular dystrophy o; A. Yamamoto; N. Sasagasako chenne muscular dystrophy and a comorbid attention deficit

. Faber; J. Hendriksen ; J. Vles ry and processing speed in males with Duchenne muscular dystrophy Kuijk; A. Aartsma-Rus; S. Klinkenberg; J. Vles; J. Hendriksen in dystrophinopathies ouza; T. Rosa ; S. Ciasca; A. Nucci; M. França Jr

e muscular dystrophy

ne muscular dystrophy using insurance claims data

merging phenotype lores; A. Dubrovsky

uscular dystrophy with Chilaiditi syndrome mizu-Motohashi; H. Komaki; M. Sasaki rter-defibrillators in Duchenne and Becker muscular dystrophy . Law; S. Batlivala; N. Hanlon; A. Fournier; C. Spurney; M.

omarkers (P.31-38)

stinguishing Duchenne muscular dystrophy from Becker muscular

iao; J. Cao; H. Zhang; C. Zhang expressed in Duchenne muscular dystrophy patients i; T. Ueyama

M scores in dystrophinopathies ese ; T. Rosa; A. Nucci; M. França Jr; S. Dertkigil etwork . Rooney; D. Wang; M. Daniels; E. Finanger; R. Finkel; G. Tennekoon; H.

s associated with earlier loss of ambulation in Duchenne muscular

oijmans; B. Wong; C. Tian; I. Rybalsky; K. Shellenbarger; J. Le Louër; P.

using magnetic resonance spectroscopy (MRS) in Duchenne muscular

. Layton; D. Roblin & Imaging DMD Consortium; Phase Out DMD

is related to disease severity in boys with Duchenne muscular

omyopathy natural history by cardiac magnetic resonance imaging t for cardiac surveillance

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logical clarification

f function ervoort; S. Neuhaus; K. Alter; C. Zampieri; C. Stanley; J. Matsubara; A. ; A. Nascimento; J. Colomer; F. Munell; G. Haliloglu; A. Foley; A.


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P.41 Dominant TNNC2 mutations cause a distinclinical improvement over time S. Donkervoort ; P. Mohassel; N. Voermans;Lopes Abath Neto; S. Moore; C. Ottenheijm

P.42 Congenital hyporegenerative microcytic aneJ. Reimann ; C. Scholtes; K. Cremer; S. Sch

P.43 Prevalence of cytoplasmic bodies in a largeM. Aizpurua; F. Cepas; A. Sarkozy; A. Ma

P.44 Mutations in the myomaker gene causes CC. Hedberg-Oldfors ; C. Lindberg; A. Oldfo

P.45 A new congenital myopathy with multiple E. Malfatti ; X. Lornage; J. Böhm; G. Broch

P.46 Novel ASCC1 mutations causing prenatal-oJ. Böhm ; E. Malfatti; E. Oates; K. Jones; N

P.47 ASC1 -related myopathy is associated with dspectrum and understanding the pathogeI. Duband-Goulet; F. Catervi; E. Cabet; L. Beggs; L. Servais; A. Ferreiro

P.48 Hypercontractile congenital muscle stiffnesC. Camelo ; A. Da Silva; U. Reed; C. Bönn

P.49 Redefining morphological spectrum of RYRM. Garibaldi ; J. Rendu; J. Brocard; E. laceBevilacqua; F. Lubieniecki; S. Monges; A.

P.50 Loss of FKBP12-RYR1 binding ex vivo is areceptor 1-related myopathies J. Todd ; J. Witherspoon; A. Kushnir; S. ReBönnemann; K. Meilleur

P.51 Familial variation in phenotype in RYR1 -reN. Witting ; T. Solheim; J. Dahlqvist; N. Po

P.52 Core and cytoplasmic bodies in a patient wL. Gonzalez-Quereda ; A. Pellisé; N. Vidal;

P.53 Clinical, genetic and pathological characterRYR1 -related myopathy M. Sa ; M, DiStefano; R. Mein; R. Phadke; Sarkozy; F. Muntoni

P.54 Forced and slow vital capacities in RYR1 -RI. Chrismer ; J. Witherspoon; B. Drinkard; M

P.55 Historical perspective and proposal for a uT. Lawal ; J. Todd; J. Witherspoon; C. Bönn

Congenital myasthenic syndromes and myaChairpersons: Duygu Selcen and Ulrike Sch

P.56 Clinical manifestation and associated co-mostudy P. Karachunski

P.57 Clinical features in juvenile myasthenia graM. García Erro; E. Cavassa; J. Muntadas; M

P.58 Myasthenia gravis anti-MuSK (MuSK-MGM. Rugiero; V. Salutto; V. Alvarez; M. Bet

P.59 Ocular vestibular evoked myogenic potentiR. de Meel ; K. Keene; M. Tannemaat; J. V

P.60 Respiratory dysfunction in childhood myasJ. Vajsar ; H. Katzberg; H. Qashqari; N. Chr

P.61 Pembrolizumab induced myasthenia gravisM. Rugiero ; M. Bettini; F. Silveira; F. Sosa

P.62 A case of clinically apparent myasthenia grS. Ho; J. So; D. Bae

P.63 Myasthenia gravis like syndrome after botuJ. So ; S. Ho; D. Bae

P.64 Living with myasthenia gravis E. Louet; S. Misdrahi; C. Orblin Bedos; S. S. Berrih-Aknin; A. Jobic; P. Aegerter; P. T

genital myopathy with vocal cord paralysis, ophthalmoplegia and

uinn; M. van de Locht; J. de Winter; S. Conijn; M. Helmes; L. Medne; O. Foley; C. Bönnemann of unknown origin with XMEA-like muscle pathology erger; W. Kunz s of diagnostic paediatric muscle biopsies F. Muntoni; C. Sewry; R. Phadke ineman-Ziter syndrome with muscle fiber hypertrophy

ured cores . Carlier; J. Laporte; M. Fardeau; N. Romero

muscle weakness with arthrogryposis and congenital bone fractures ero; J. Laporte

s in myoblast proliferation and muscle growth: defining the phenotypicof an emerging congenital myopathy non; C. Genetti; T. Gidaro; A. Koparir; S. Coppen; E. Pierce-Hoffman; A.

n; E. Zanoteli essive myopathies . Beuvin; G. Brochier; C. Labasse; A. Madelaine; E. Malfatti; J. to; I. Marty; N. Romero -translational modification consistently evident across diverse ryanodine

M. Razaqyar; M. Shelton; I. Chrismer; C. Grunseich; A. Mankodi; C.

myalgia-rhabdomyolysis syndrome ; M. Duno; J. Vissing symptomatic hyperCKemia caused by a RYR1 p.Arg163Cys mutation odriguez; P. Gallano; M. Olivén of a wide paediatric cohort of patients with dominant and recessive

ng; P. Munot; R. Quinlivan; A. Manzur; S. Robb; M. Main; C. Sewry; A.

ckman; M. Shelton; A. Kuo; C. Allen; J. Todd; M. Jain; M. Meilleur ryanodine receptor 1-related myopathies nomenclature n; S. Hamilton; J. Dowling; K. Meilleur

ia (P.56-75)

ities in patients with juvenile-onset myasthenia gravis: a retrospective

an Argentinian cohort uni; G. Vázquez rapeutic experience in 27 patients . Genco; C. Mazia myasthenia gravis uren

a ; I. Narang necrotizing myopathy with severe respiratory failure cete; S. Christiansen after resection of non-myasthenic thymic cyst

toxin type A injections for calf reduction

aum; JY. Hogrel; P. Portero; B. Clair; B. Eymard ; S. Demeret; G. Bassez; ie; T. Sharshar; M. Gargiulo; MGEX Study group


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P.65 Muscular pathological features in LambertY. Zhang ; R. Ban; H. Liu; C. Pu; Q. Shi

P.66 Congenital myasthenic syndromes: how do B. Eymard ; D. Sternberg; M. Mayer; T. StoFontaine; D. Hantaï; M. Fardeau; N. Romer

P.67 Congenital myasthenic syndromes due to imreceptor X. Shen; D. Selcen ; J. Brengman; S. Shen; Deymeer; S. Sine; A. Engel

P.68 The p. N88K mutation in the RAPSN geneE. Estephan ; A. Zambon; P. Marchiori; A. S

P.69 New AGRN mutations in a patient with limS. Coppens; G. Glibert; N. Deconinck

P.70 New homozygous mutation in DPAGT1 genT. Gidaro ; L. Vandenbrande; E. Malfatti; C.

P.71 Unexpected findings of congenital myasthenneuromuscular patients in Norway C. Jonsrud ; P. Aden; G. Hansen; M. Mork;

P.72 Clinical features of congenital myasthenic sP. Rodriguez Cruz ; J. Palace; D. Beeson

P.73 Characterization of an Indian congenital mS. Balaraju ; A. Töpf; P. Veeramani; S. VengLochmüller

P.74 Five years of salbutamol treatment in a girF. Munell ; D. Gomez-Andrés; L. Costa Com

P.75 Development of a home-based assessment tV. Selby ; G. Ramdharry; M. Hanna; F. Mun

SMA clincal data, outcome measures and rChairpersons: Laurent Servais and Eduardo

P.76 A prospective functional assessment in typeage on disease progression rate D. Natera - de Benito; A. Frongia; M. AlarPadros; S. Roca; M. Vigo; J. Medina; J. Co

P.77 Two year longitudinal data of the Europeamuscular atrophy A. Chabanon ; M. Annoussamy; A. Daron; YSchara; T. Gidaro; A. Seferian; L. Lowes; P

P.78 Clinical and molecular features of proximaM. Oliveira Santos ; C. Falcão de Campos; T. Coelho; I. Fineza; M. Santos; T. Moreno

P.79 The relationship between function and musatrophy type II and III – a prospective sE. Milev ; V. Selby; J. Reznik; R. Tillmann;

P.80 Survival and ventilation among those with membership survey L. Belter ; J. Jarecki; C. Jones; A. Paradis; M

P.81 Anthropometric and nutritional assessmentC. Saure ; F. de Castro Perez; S. Monges

P.82 Vitamin D status among patients with spinM. Martínez-Jalile; A. Lozano-Arango; C. D

P.83 Longitudinal study of body composition anN. DiIorgi; E. Medone; G. Brigati; S. NotaMaghnie; C. Bruno

P.84 Clinical discordance in spinal muscular atrS. Monges; J. Mozzoni ; M. Franchi; S. MedTizzano; S. Bernal

P.85 Cognitive performance of children with 5qG. Polido; M. Miranda; N. Carvas Junior; F

P.86 Cognitive assessment in spinal muscular atL. Paternoster; S. Baijot; G. Deliens; N. Go

P.87 Use of the ACTIVE-mini for quantifying mL. Nelson ; L. Alfano; D. Chen; N. Miller; Lowes

n myasthenic syndrome

ians face diagnostic complexity and long-term prognosis in 2018? c; E. Fournier; S. Nicole; A. Behin; P. Laforêt; L. Servais; S. Bauché; B.

ed principal coupling pathway in the ε -subunit of muscle acetylcholine

urmus; V. Preethish-Kumar; A. Yuceyar; S. Vengalil; A. Nalini; F.

razilian patients with congenital myasthenic syndrome C. Moreno; U. Reed; A. Töpf; H. Lochmüller; E. Zanoteli dle congenital myasthenic syndrome

ing to LG-CMS with tubular aggregates sse; P. Carlier; N. Romero; L. Servais; J. Böhm

ndromes by NGS testing using an extended gene panel on

gård; T. Popperud; M. Rasmussen; N. Songstad; K. Ørstavik; T. Fagerheimome due to mutations in COL13A1

enic syndrome cohort by whole exome sequencing K. Polavarapu; S. Nashi; J. Kirschner; R. Horvath; N. Atchayaram; H.

congenital myasthenic syndrome caused by mutations in COL13A1 ; A. Macaya; M. Gratacós; M. Dusl; J. Senderek; H. Lochmüller r monitoring fluctuations in symptoms in the myasthenic population

ies (P.76-97) ano

inal muscular atrophy in the Spanish population. Importance of the

A. Borras; J. Armas; J. Exposito; L. Carrera; L. Martorell; D. Moya; N. r; C. Ortez; A. Nascimento spective natural history study of patients with type 2 and 3 spinal

éon; C. Cances; C. Vuillerot; N. Goemans; J. Cuisset; V. Laugel; U. lier; JY. Hogrel; C. Czech; R. Hermosilla; O. Kwaja; L. Servais al muscle atrophy in Portugal: a multicentre retrospective study rrido; I. Conceição; F. Palavra; L. Negrão; J. Pedro Vieira; C. Mendonça;

trength in the upper limb in a cohort of children with spinal muscular

odice; M. Scoto; JY. Hogrel; F. Muntoni I spinal muscular atrophy: results from the 2017 Cure SMA

averi; S. Reyna; K. Hobby MA type II and III

scular atrophy r; B. Suárez; K. Alvarez; C. Castiglioni e mass in spinal muscular atrophy type 2/3

a; C. Panicucci; C. Fiorillo; M. Pedemonte; C. Minetti; M.

siblings: the exception or the rule? ; L. Gravina; H. Aráoz; F. de Castro; V. Aguerre; L. Alías; L. Chertkoff; E.

l muscular atrophy: a systematic review

omano; U. Reed; E. Zanoteli; M. Voos type 1-2 using eye tracking system

s; L. Servais; N. Deconinck ent in infants with spinal muscular atrophy

ugan; S. Rust; E. Lin; S. Lin; S. Wang-Price; C. Swank; M. Thompson; L.


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P.88 Associations between NMR, electrophysioloJY. Hogrel ; M. Annoussamy; A. Chabanon;Laugel; U. Schara; E. Gargaun; T. Gidaro; Servais; Study Group

P.89 More than just fun and games: ACTIVE windividuals with spinal muscular atrophyL. Alfano; N. Miller; M. Iammarino; M. MTsao; S. Al Zaidy; J. Kissel; L. Lowes

P.90 The shifting landscape of SMA: developmeM. Deguise; A. Beauvais; A. Tiernay; B. P

P.91 Muscle imaging and function in patients wJ. Dahlqvist ; S. Oestergaard; N. Poulsen; J.

P.92 Clinical and molecular characterization of S. Calligaris ; A. Guzmán; A. Savransky; C.Gravina; S. Monges

P.93 Collaborative data collection by TREAT-NMatrophy J. Bullivant ; V. Hodgkinson-BrechenmacherGoemans

P.94 Cure SMA membership: findings from the L. Belter ; C. Jones; A. Paradis; M. Jhaveri;

P.95 Economic burden of infant-onset (type 1) sO. Dabbous ; J. Seda; M. Droege; D. Sprou

P.96 Number needed to treat in spinal muscularO. Dabbous ; M. Cloutier; A. Guerin; I. Piv

P.97 Development of a decision-analytic model fatrophy T. Dangouloff ; M. Hiligsmann; J. Caberg; F

15:45-16:15 Afternoon refreshments, exhibition and pos

16:00-17:30 Poster session 2: parallel sessions (P.98-195

LGMD autosomal ressessive and dominantChairpersons: Isabelle Richard and Ivailo T

P.98 AAV-mediated gene transfer of FKRP for tE. Gicquel; S. Brown; I. Richard

P.99 Limb-girdle muscular dystrophy 2Z in a BT. Chamova ; A. Taneva; M. Gospodinova; D

P.100 BVES loss-of-function mutations in limb-giI. Nelson; W. De Ridder; B. Asselbergh; B.Eymard; J. De Bleecker; S. Symoens; R. ScBaets; G. Bonne

P.101 Recurrent rhabdomyolysis and subtle proxsarcoglycanopathy and a review of the litH. Sampaio ; M. Farrar; A. Al Safar

P.102 Limb girdle muscular dystrophy type 2A: calpain-3 mutations R. El-Khoury ; R. Sawaya; M. Lamaa; M. A

P.103 A very early onset of calpainopathy (LGMR. Andrade ; L. Lima; M. Melo; A. Mirand

P.104 Coalition to Cure Calpain 3: a patient orgadystrophy type 2A

J. Levy ; J. Boslego; M. Wrubel; L. WrubelP.105 Recessive limb-girdle muscular dystrophies

A. Coimbra Neto ; T. Leoni; A. Martinez; AP.106 Limb girdle muscular dystrophy: steps tow

M. Hunter; A. Hatzipolakis; C. Heatwole; MP.107 Limb-girdle muscular dystrophy in Taiwan

W. Liang ; C. Wang; X. Tian; W. Chen; T. KP.108 Functional characterization of DNAJB6 J-d

P. Jonson; J. Sarparanta ; S. Kawan; H. LuqP.109 Clinical presentation of a new transportino

C. Angelini ; R. Marozzo; V. Pegoraro

strength and function variables in SMA type 2 and 3 aron; Y. Péréon; C. Cances; C. Vuillerot; N. Goemans; J. Cuisset; V. ferian; S. Turk; R. Hermosilla; E. Fournier; P. Baudin; P. Carlier; L.

pace volume video game quantifies meaningful change in function in

Clingenpeel; S. Lowes; M. Dugan; M. Waldrop; K. Flanigan; G. Noritz; C.

a new mild mouse model to better understand disease in aging . McFall; Y. De Repentigny; R. Kothary inal and bulbar muscular atrophy ng q spinal muscular atrophies padre; F. Lubieniecki; C. Tesi Rocha; D. Tiziano; V. Fano; E. Tizzano; P.

egistries to support post-marketing surveillance in spinal muscular

Rodrigues; Study Group; 2; V. Straub; H, Dawkins; C. Campbell; N.

membership survey eyna; K. Hobby; J. Jarecki muscular atrophy: a retrospective claims database analysis

phy type 1 with AVXS-101 relative to nusinersen E. Wu; M. Droege; D. Sproule e economic evaluation of newborn screening for spinal muscular

mer; L. Servais

ster area

-110) v

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ian family tareva; K. Johnson; A. Töpf; V. Straub; I. Tournev uscular dystrophy 2X with cardiac conduction disorders

aepe; M. Beuvin; R. Ben Yaou; A. Boland; J. Deleuze; T. Maisonobe; B. er; T. Brand; A. Töpf; K. Johnson; V. Straub; P. De Jonghe; J.

weakness in two female siblings diagnosed with alpha re

ent features of mitochondrial deficiencies associated with novel

-Barmada

tion committed to treating and ultimately curing limb girdle muscular

pencer Brazilian tertiary hospital: epidemiological, clinical and genetic profile ci; M. Franca Junior comprehensive patient reported outcome cklund; J. Statland; C. Weihl ; N. Johnson ferral center experience

I. Nishino; L. Wong; Y. Jong n mutations . Jokela; B. Udd phenotype in an Hungarian family LGMD D2


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P.110 Limb girdle muscular dystrophy type 1G cin a Chinese family Y. Da ; Y. Sun; H. Chen; Y. lu; L. Di; X. W

DMD clinical therapies I (P.111-123) Chairpersons: Francesco Muntoni and Nico

P.111 Preservation of function over time as measDuchenne muscular dystrophy treated wiC. McDonald ; L. Wei; F. Jin; G. Elfring; P.

P.112 STRIDE

TM : A patient registry study exammuscular dystrophy (nmDMD) F. Muntoni ; I. Desguerre; M. Guglieri; E. MDelage; G. Elfring; C. Werner; T. Schilling;

P.113 Long-term effect - four years - of ataluren C. Ortez ; J. Medina; M. Vigo; O. Moya; N.Mallebrera; L. Solé; M. Cubells; C. Jou; A

P.114 Vamorolone as a replacement for corticosteK. Nagaraju ; P. Clemens; J. Damsker; J. MN. Kuntz; R. Finkel; M. Guglieri; M. Tulin

P.115 Targeting NADPH oxidases in models of DH. Ismail ; O. Dorchies; E. Gayi; L. Neff; L

P.116 Edasalonexent, an NF- κB Inhibitor, slows dto 7-year old patients with Duchenne muF. Richard ; K. Vandenborne; H. Sweeney; EForbes; W. Triplett; S. Yum; M. Mancini; J

P.117 Edasalonexent, an oral NF- κB inhibitor, inPOLARIS study design R. Finkel; C. McDonald; H. Sweeney; M. M

P.118 Assessing the safety and efficacy of MNK-1double-blind, placebo-controlled, multipleB. Due ; P. Becker; T. Crawford

P.119 Tamoxifen in Duchenne muscular dystrophplacebo-controlled, phase 3 safety and effiS. Schmidt; P. Hafner; A. Orsini; D. RubinoTopaloglu; D. Fischer

P.120 Epicatechin improves biomarkers of muscleskeletal muscle exercise response in non-aC. McDonald ; E. Henricson; Y. Dayan; A.

P.121 Phase II study of TAS-205 in patients withT. Nakayama ; S. Kuru; H. Komaki; S. Take

P.122 A phase III clinical study assessing the effitaking concomitant glucocorticoids (SIDEG. Buyse ; R. Drake; S. Hasham; R. Quinliv

P.123 A randomized, placebo-controlled, double-b(BMS-986089) in ambulatory boys with DK. Wagner; B. Wong; B. Byrne; H. SweeneBechtold

DMD clinical therapies II (P.124-135) Chairpersons: Ketan Patel and Ronald Coh

P.124 Eteplirsen is well tolerated in adults with mC. Mix ; E. Naughton; S. Forte

P.125 Eteplirsen treatment attenuates respiratorymuscular dystrophy N. Khan ; L. Han; B. Kinane; H. Gordish-D

P.126 Respiratory function decline in eteplirsen-tN. Khan ; L. Han; B. Kinane; H. Gordish-D

P.127 Identification of potent, muscle-targeting inA. Durbin ; C. Shivalila; N. Kothari; C. RinaLiu; K. Longo; G. Lu; P. Nadella; E. Purce

P.128 A phase II, dose finding study to assess theNS-065/NCNP-01 in boys with Duchenne Smith; C. McDonald; L. Morgenroth; H. O

by p.D378N mutation in HNRPDL gene with distal muscle weakness

econinck

by North Star ambulatory assessment in boys with nonsense mutation luren

llis; M. Souza; J. McIntosh; S. Peltz; F. Muntoni the use of ataluren (Translarna TM ) in patients with nonsense mutation

ri; A. Nascimento Osorio; J. Kirschner; M. Tulinius; F. Buccello; A. rifillis urteen patients with nonsense mutation Duchenne muscular dystrophy os; D. Natera De Benito; L. Carrera; J. Colomer; I. Zschaeck; C. Jimenez -imento in Duchenne muscular dystrophy: phase 2a results in 48 DMD boys L. Mengle-Gaw; L. Conklin; E. Smith; D. Castro; J. Mah; C. McDonald; . Nevo; M. Ryan; R. Webster; A. Smith; L. Morgenroth; E. Hoffman ne muscular dystrophy

pozza e progression over more than a year compared to control period in 4 r dystrophy anger; G. Tennekoon; P. Shieh; R. Willcocks; G. Walter; W. Rooney; S. Dougall; A. Fretzen; P. Bista; A. Nichols; J. Donovan lopment for treatment of Duchenne muscular dystrophy: the phase 3

ni; J. MacDougall; J. Donovan n patients with Duchenne muscular dystrophy in a multicenter, study

tionale and protocol for a multicentre, randomised, double-blind, 48-week trial ht; O. Dorchies; A. Nascimiento Osorio; U. Schara; S. Spinty; H.

th and regeneration, oxidative stress, and NO reserve, and improves latory DMD patients with presymptomatic cardiomyopathy ici; E. Goude; F. Villareal; S. Dugar enne muscular dystrophy: subgroup analyses

and safety of idebenone in patients with Duchenne muscular dystrophy ) . Mercuri; O. Mayer phase 1b/2 study of the novel anti-myostatin adnectin RG6206 nne muscular dystrophy Jacobsen; G. Tirucherai; M. Rabbia; J. Dukart; H. Kletz ; M. Krishnan; C.

r moderate renal impairment

ine in ambulatory and non-ambulatory patients with Duchenne

an; L. Lowes; C. McDonald; CINRG DNHS Investigators patients diverges from natural history comparators over time an; L. Lowes; C. McDonald ational stereo-pure oligonucleotides for exon 53 DMD therapy . McClorey; I. Antonijevic; M. Byrne; J. Davis II; L. Guo; N. Iwamoto; F.

abrook; S. Standley; Z. Zhong; J. Zhang; M. Wood; C. Vargeese ty, tolerability, pharmacokinetics, and pharmacodynamics of ular dystrophy P. Clemens ; V. Rao; A. Connolly; A. Harper; J. Mah; E.

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P.129 A Japanese phase I/II study of NS-065/NCdystrophy - a dose-finding study H. Komaki ; Y. Takeshima; T. Matsumura; S

P.130 CRISPR/Cas9 and TALEN edit the DMD gS. Mata Lopez; C. Balog; S. Vitha; M. Bet

P.131 AAV-mediated gene transfer with GALGT2trial K. Flanigan ; L. Chicoine; J. Cheatham; S. CRinaldi; M. Waldrop; D. Zygmunt; R. Xu;

P.132 Identification of developmental myosin posiimportant component of the process to coJ. Tinsley ; F. Muntoni; G. Layton; C. Faela

P.133 The burden of participation in a clinical trS. Geuens; J. Willen; C. Antonis; N. Goem

P.134 Comparing home-based respiratory functioG. Buyse ; T. Meier; M. Leinonen; S. Hasha

P.135 DMD-HUB: expanding clinical trial capaciE. Heslop ; M. Guglieri; K. Bushby; C. Tur

Congenital myopathies (CNM) (P.136-148) Chairpersons: Johann Böhm and Ronald C

P.136 INCEPTUS pre-phase 1, prospective, non-iand younger with X-linked myotubular mP. Shieh ; W. Müller-Felber; B. Smith; C. BR. Graham; M. Jain; M. Lawlor; V. MacBe

P.137 Novel deep intronic mutations in MTM1 inT. Kumutpongpanich ; S. Hayashi; A. Iida; M

P.138 The CHOP INTEND scale (Children’s Hosmyotubular myopathy: content validity aS. Rico; D. Bilder; T. Duong ; E. James; M.

P.139 Mortality and respiratory support in X-Linmulticenter, retrospective medical record R. Graham; B. Byrne; S. de Chastonay; T. S. Prasad; S. Rico ; A. Beggs

P.140 Clinical changes over time in a European aM. Annoussamy ; C. Lilien; T. Gidaro; V. CHernandez; C. Vuillerot; S. Fontaine; C. deServais

P.141 High frequency of manifesting carriers in tL. Souza ; C. Almeida; L. Silva; R. Pavanel

P.142 X-linked myotubular myopathy with the prH. Gonorazky ; K. Amburgey; C. Hawkins;

P.143 Myostatin as a novel blood-based biomarkemyotubular myopathy in mice S. Buono; C. Koch; A. Robé; C. Kretz; R. G

P.144 Targeting dynamin 2 rescues the three maiH. Tasfaout; S. Buono; I. Prokic; J. Ross; CLaporte; B. Cowling

P.145 Myotubular and centronuclear myopathy pJ. Bullivant ; L. Murphy; K. Napier; L. RenMarini-Bettolo

P.146 Baseline characteristics of patients with cenEuropean prospective natural history stuM. Annoussamy ; A. Grangé; C. Lilien; V. CBitoun; K. Paradis; L. Thielemans; S. Van

P.147 Novel SPEG mutations in congenital myopaX. Lornage ; P. Sabouraud; B. Lannes; D. G

P.148 Centronuclear myopathy with BIN1 -like mT. Rosa ; J. Domingues; C. Martins Jr; J. D

Inflammatory myopathies; (P.149-166) Chairpersons: Ichizo Nishino and Werner S

P.149 Characterization of a cohort of Chinese inflY. Luo ; H. Duan; Q. Li; F. Bi

P.150 Clinical and muscle imaging follow-up in aY. Zhao; W. Zhang ; Z. Wang; Y. Yuan

, exon 53 skipping drug, in patients with Duchenne muscular

sa; M. Funato; Y. Egawa; S. Takeda c mutation in golden retriever muscular dystrophy . Barnett; J. Krnegay; P. Nghiem

uchenne muscular dystrophy: design of an ongoing phase I/II clinical

ham; T. Simmons; L. Lowes; M. Iammarino; N. Miller; L. Alfano; F. rtin bres acts both as a clinical biomarker for muscle disease and an ezutromid target engagement

Patterson-Kane; A. Hetherington; K. Davies r boys with Duchenne muscular dystrophy . De Waele

nitoring to hospital-based spirometry in Duchenne muscular dystrophy . Mayer; T. Voit Duchenne muscular dystrophy, 1 year on . Crow; E. Crossley; A. Johnson; M. Scoto; F. Muntoni; V. Straub

entional, natural history run-in study to evaluate subjects aged 3 years thy: preliminary findings ann; J. Dowling; N. Kuntz; F. Muntoni; L. Servais; D. Bilder; T. Duong; . Noursalehi; T. Pitts; G. Rafferty; S. Rico; S. Prasad ked myotubular myopathy ubo; M. Matsuo; S. Noguchi; I. Nishino of Philadelphia infant test of neuromuscular disorders) in X-linked ychometric performance salehi; S. Bergman; G. Harding; S. Mannix; D. Phillips; C. Abel; S. Prasadmyotubular myopathy: The RECENSUS Study, an international, w

korn; I. Hughes; E. James; N. Kuntz; J. Simon; M. Yang; Z. Yu; S. Yum;

orth-american cohort of patients with X-linked myotubular myopathy . Schara; A. D’Amico; J. Dowling; B. Darras; A. Daron; M. Mayer; A. ; R. Bellance; V. Biancalana; A. Buj-Bello; JY. Hogrel; H. Landy; L.

cessive X-linked myotubular myopathy Gurgel-Giannetti; E. Zanoteli; M. Zatz; P. Otto; M. Vainzof e of nemaline rods on muscle biopsy wling antisense oligonucleotide-mediated Dnm2 knockdown to treat

z Oca; S. Guo; M. Depla; B. Monia; J. Laporte; L. Thielemans; B. Cowlingms of centronuclear myopathies tz; S. Guo; P. Koebel; B. Monia; M. Bitoun; J. Ochala; J.

t registry: accelerating the pace of research and treatment . Hunter; M. Spring; A. Lennox; H. Lochmuller; M. Bellgard; C.

uclear myopathy due to mutations in DNM2 gene enrolled in a

. Duchêne; T. Gidaro; A. Behin; J. Baets; A. D’Amico; A. Daron; M. n; L. Servais ithout centralized nuclei

d; V. Biancalana; J. Böhm; J. Laporte hology and DNM2 mutation os; C. Iwabe-Marchese; E. Pacheco; L. Queiroz; M. França Jr; A. Nucci

atory myopathy patients

rt of patients with anti-SRP antibody myopathy


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P.151 Spontaneous recovery in a child with anti-HB. Suárez ; A. Lozano; A. Díaz; X. Ortega;

P.152 Early-onset anti-HMGCR myopathy associaM. Villanova; Y. Ivanovic-Barbeito; N. Rom

P.153 Tight association between microinfarction aM. Inoue ; A. Uruha; J. Charuel; L. Musset;

P.155 Brachio-cervical myopathy as the clinical pA. Alonso-Jimenez ; X. Suárez-Calvet; I. Ca

P.156 Brachio-cervical inflammatory myopathy wA. Silva ; M. Vianna; R. Mendonça; E. Zan

P.157 Dysfunctional T cells in immune mediated myopathy S. Knauß; C. Preuße; N. Fischer; Y. Allenb

P.158 Kv1.3 + cells in blood and muscle from patT. Mozaffar ; G. Coulis; J. Kastenschmidt; M

P.159 Feasibility and validation of modified oculomyositis N. Goyal ; M. Wencel; N. Araujo; E. Medin

P.160 A bioinformatics approach to define the agC. Weihl ; P. Ciryam; A. Guttsches; K. Mar

P.161 A rare case of distal myositis in a patient wJ. Shin ; A. Lee; S. Choi; Y. Hong; J. Sung

P.162 IgG-4 related myositis - a new entity amonV. Casteleyn; H. Radbruch; H. Goebel; U. S

P.163 Myositis and fasciitis due to disseminated hA. Silva ; M. Vianna; H. Esteves; F. Comell

P.164 Predictive value of cerebral 18F-FDG PET

P. Blanc-Durand; A. Van Der Gucht; E. GuP.165 Sporadic late-onset nemaline myopathy

E. Naddaf ; M. Milone; A. Kansagra; F. Bua

SMA therapies I (P.167-182) Chairpersons: Eugenio Mercuri and Arthur

P.167 Evaluating the respiratory health of childreAccess Program (EAP) L. Edel ; F. Muntoni; V. Robinson; C. Grim

P.168 Treatment by nusinersen in spinal musculaK. Aragon-Gawinska; A. Seferian; L. VandeC. Cances; J. Ropars; M. Chouchane; Z. BaMarini-Bettolo; K. White; M. Scoto; T. Gid

P.169 Nusinersen experience in spinal muscular aA. Tagiyev; N. Bulut; G. Aydin; I. Alemdar

P.170 Interim report on the safety and efficacy oatrophy: results from the SHINE study D. Castro ; M. Farrar; R. Finkel; M. Tuliniu

P.171 Transforaminal intrathecal delivery of nusimuscular atrophy: results of technical suS. Apkon ; J. Weaver; N. Natarajan; D. Shaw

P.172 Retrospective study in children with SMA

M. Gomez Garcia de la Banda ; B. Doré; ADupont; C. Bocassin; A. Essid; L. DurigneuQuijano-Roy

P.173 Spinraza experience in Dallas L. Nelson; M. Valle; D. Forrest; E. Klingm

P.174 Lumbar catheter placement for nusinersenspinal surgery R. Mendonça; A. Silva ; O. Velasco; D. Car

P.175 Intrathecal nusinersen in spinal muscular aG. Vazquez ; E. Cavassa; M. Pinto; S. Jaimo

P.176 Experience using Spinraza to treat adults wJ. Day ; C. Wolford; C. Macpherson; K. HaVivo; Z. Zolkipli Cunningham; R. Finkel; J

CR autoimmune necrotizing myopathy az; G. Calcagno; C. Hervias; J. Bevilacqua; C. Castiglioni

ith muscle mitochondrial alterations and calpain-3 deficiency J. Nectoux; T. Mongini; F. Leturcq; E. Malfatti apillary MAC deposition in dermatomyositis uzuki; M. Kuwana; T. Mimori; I. Nishio tation of scleroderma. Case series í; E. Gallardo; J. Diaz-Manera mphoid follicle-like structures in a patient with scleroderma

tizing myopathy, inclusion body myopathy and immune toxicity related

. Radbruch; V. Matyash; M. Endres; H. Goebel; O. Benveniste; W. Stenzelwith sporadic inclusion body myositis ncel; S. Villalta r facial respiratory score (mOBFRS) in sporadic inclusion body

Zhang; D. Nguyen; T. Mozaffar tion capacity of the myofiber proteome in inclusion body myositis . Morimoto; M. Vendruscolo; R. Kley hymoma

ammatory myopathies ider; W. Stenzel lasmosis Zanoteli iagnosing macrophagic myofasciitis: an individual SVM-based approach

. Abulizi; M. Aoun Sebaiti; E. Itti; F. Authier

. Kourelis

hes

th spinal muscular atrophy type 1 on nusinersen under the Expanded

Abel; A. Manzur; P. Munot; M. Scoto; E. Chan ophy type 1 patients older than 7 months - 14 months follow-up ande; A. Daron; A. Ulinici; N. Deconinck; M. Annoussamy; C. Vuillerot; a; S. Modrzejewska; I. Cuppen; I. Hughes; M. Illingworth; C. . Servais y type 1: two-year results of 21 patients

Gürbüz; N. Eroglu; O. Yilmaz; G. Haliloglu; A. Karaduman; H. Topaloglu er-term treatment with nusinersen in infantile-onset spinal muscular

Krosschell; K. Saito; Y. Zhang; I. Bhan; W. Farwell; S. Reyna n using cone-beam computed tomography in children with spinal and safety Koo; G. Shivaram; E. Monroe d by intrathecal Nusinersen ézit; I. Dabaj; B. Mbieleu; S. Pruvost; A. Felter; T. Thiry; S. Tirolien; P. Cances; L. Servais; I. Haegy; J. Bergounioux; I. Desguerre; R. Carlier; S.

Ramm; A. Farrow-Gillespie; T. Spain; D. Castro; S. Iannaccone inistration in a SMA2 patient with spinal deformities and previous

U. Conti-reed; E. Zanoteli y: case series in Argentina

A. Schteinschnaider; F. Dallesandro; S. Duhalde; V. Aguerre; C. Routaboulpinal muscular atrophy n; S. Paulose; M. Zeineh; W. Martens; M. McDermott; B. Darras; D. De pson; T. Duong


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P.177 AVXS-101 phase 1 gene therapy clinical tridevelopmental milestones J. Mendell; S. Al-Zaidy ; R. Shell; W. ArnoKissel; S. Nagendran; J. L’Italien; D. Sprou

P.178 AVXS-101 phase 1 gene therapy clinical tribulbar function reduces frequency and dR. Shell ; S. Al-Zaidy; W. Arnold; L. RodinChurch; J. Kissel; S. Nagendran; F. Ogrinc;

P.179 AVXS-101 trial experience: CHOP-INTENDprecede subsequent milestone achievemenwith SMA type 1 L. Lowes ; L. Alfano; M. Iammarino; N. Mi

P.180 AVXS-101 phase 1 gene replacement therapwith the proposed therapeutic dose were L. Alfano ; L. Lowes; S. Al-Zaidy; R. ShellNagendran; J. L’Italien; D. Sproule; C. Wel

P.181 AVXS-101 gene replacement therapy for spJ. Day ; D. Feltner; F. Ogrinc; T. Macek; C.Mendell

P.182 Early diagnosis and speed to effect in infanO. Dabbous ; M. Droege; D. Feltner; A. No

Mitochondrial diseases (P.183-195) Chairpersons: Anders Oldfors and Rahul P

P.183 MELAS and reversible cerebral vasoconstrY. Zhao ; C. Yan

P.184 Hypercapnic respiratory failure is commonY. Zhao ; C. Yan

P.185 MTTL 3243A > G mutation in a patient wituncommon phenotype A. Berardo; R. Reisin ; G. Tasca; B. Udd

P.186 Muscle histopathology in infantile DNM1L -E. Bertini ; D. Verrigni; D. Battaglia; A. TorGhezzi; A. Ardissone; C. Lamperti; A. Leg

P.187 Mitochondrial disorders with polymerase gN. Gayathri ; P. Bindu; P. Govindaraj; C. Sh

P.188 Novel POLG mutations and variable clinicaZ. Wang ; X. Zhao; J. Liu; W. Zhang; Y. Yu

P.189 A novel case of MSTO1 gene related congeD. Ardicli; I. Zaharieva ; A. Sarkozy; R. PhMuntoni

P.190 Novel variant of GOSR2 gene in a patient M. Arroyo; B. Wong; C. Fuller; E. Schorry

P.191 Single muscle fiber analysis of extraocular mutation in the MT-TN gene E. Schlapakow ; V. Peeva; M. Jeub; B. Wab

P.192 Severe isolated mitochondrial myopathy in M. Loos ; H. Aráoz; F. Lubieniecki; A. Tara

P.193 Unexpected genetic diagnosis of mitochondA. Topf ; Y. Oktay; S. Balaraju; E. Yılmaz; Lochmüller; S. Hiz; R. Horvath

P.194 Deficiency of the iron-sulphur cluster assemchain complex I, II and IV in muscle C. Thomsen; Y. Sunnerhagen; A. Oldfors

P.195 A novel multiplex chromogenic immunoassdefects in diagnostic muscle biopsies D. Chambers; A. Kumar; L. Feng; I. Hargr

18:00-19:30 Symposium 1

spinal muscular atrophy type 1: event-free survival and achievement of

Rodino-Klapac; T. Prior; L. Lowes; L. Alfano; K. Berry; K. Church; J. . Wells; A. Burghes; K. Foust; K. Meyer; S. Likhite; B. Kaspar spinal muscular atrophy type 1: improvement in respiratory and n of hospitalizations compared to natural history pac; T. Prior; K. Kotha; G. Paul; L. Lowes; L. Alfano; K. Berry; K. proule; C. Wells; K. Meyer; S. Likhite; B. Kaspar; J. Mendell ctively quantifies early, rapid, and sustained improvements that is not sensitive to continued advances in motor function in infants

. Menier; J. Cardenas; D. Sproule; S. Nagendran; S. Al-Zaidy; J. Mendellnical trial in spinal muscular atrophy type 1: patients treated early to sit unassisted at a younger age

rnold; L. Rodino-Klapac; T. Prior; K. Berry; K. Church; J. Kissel; S. . Burghes; K. Foust; K. Meyer; S. Likhite; B. Kaspar; J. Mendell muscular atrophy type 1: pivotal study (STR1VE) update s; L. Muehring; J. L’Italien; D. Sproule; S. Nagendran; B. Kaspar; J.

et spinal muscular atrophy M. Menier; D. Ryman; D. Sproule

entation in A3243G-related mitochondrial myopathy

ure mitochondrial myopathy mimicking a distal myopathy, a striking

d mitochondrial epileptic encephalopathy is key for clinical diagnosis L. Figa Talamanca; R. Carrozzo; D. Diodato; A. D’Amico; L. Papetti; D. Goffrini a 1 ( POLG1 ) mutations: a study from tertiary referral centre ; K. Chetan; S. Deepha; N. Madhu; A. Taly notypes in 5 Chinese patients with mitochondrial diseases

muscular dystrophy with cerebellar involvement C. Deshpande; I. Bodi; A. Siddiqui; J. U-King-Im; H. Jungbluth; F.

nting with mitochondrial myopathy and epilepsy lm; C. Tian keletal muscles in a CPEO patient harboring a pathogenic point

G. Zsurka; W. Kunz; C. Kornblum

hood R. Caraballo; L. Chertkoff; S. Monges isease in three consanguineous Turkish families nmezler; A. Yaramis; S. Güngör; S. Laurie; S. Beltran; I. Gut; H.

protein ISCU causes impaired biogenesis or stability of respiratory

evaluating mitochondrial respiratory chain complex I and complex IV

A. Lam; A. Manzur; F. Muntoni; C. Sewry; J. Poulton; R. Phadke


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hursday 4 October 2018

07:00- Conference desk opens

07:30-09:00 Symposium 2

09:00-10:30 Mitochondrial diseases I; Invited lectures (I.4Chairpersons: Cornelia Kornblum and John

I.4 Skeletal muscle manifestations in mitochondP. Mishra

I.5 Perturbed mitochondrial homeostasis in theM. Zeviani ; A. Dogan; M. Sanchez; R. Ceru

10:30-11:00 Morning refreshments, exhibition and poste

11:00-12:00 Mitochondrial diseases II; Invited lectures (I.Chairpersons: Mariz Vainzof and Kevin Flan

I.6 Deoxynucleoside therapy for mitochondrial M. Hirano ; C. Lopez-Garcia; X. Rosales; K.

I.7 Development of genetic therapy for mtDNAS. Bacman; C. Pereira; U. Zekonyte; T. Argu

12:00-13:30 Selected oral presentations II - new insightsChairpersons: Mariz Vainzof and Kevin Flan

O.7 Mitochondrial dysfunction triggers a pro-suL. Mayorga ; B. Salassa; C. Garcia Samartino

O.8 SEPN1 -related myopathy is a systemic metareticulum-mitochondrial interaction and rA. Filipe; E. Varone; S. Arbogast; A. ChernoM. Giovarelli; C. De Palma; P. Pinton; C. G

O.9 Dysfunctional mitophagy: a potential therapS. Brady ; E. Wang; J. Carver; M. Hofer; D.

O.10 The nuclear-cytoskeleton connection and nuP. Gimpel; W. Roman; Y. Lee; B. Burke; E.

O.11 Secretion of toxic exosomes by muscle cells I. Le Gall; O. Lucas; S. Roquevière; V. MarDurieux; J. Gonzales De Aguilar; C. Martina

O.12 Eccentric contraction causes loss of microtumicro-dystrophin D. Nelson ; A. Lindsay; D. Lowe; J. Ervasti


14:00-15:30 Symposium 3

15:30-18:00 Poster viewing session – Poster area

riday 5 October 2018

07:30- Conference desk open

07:30-08:30 NMD Editorial Board Meeting – Room: Agr

08:30-10:00 New therapeutic approaches; Invited lecturesChairpersons: Nathalie Goemans and Bened

I.8 Emerging therapeutic approaches for faciosS.Q. Harper

I.9 Treatment of Duchenne muscular dystrophyE. Mercuri


10:30-12:30 Selected oral presentations III - New therapChairpersons: Nathalie Goemans and Bened

O.13 Genome editing for Duchenne muscular dysC. Gersbach ; C. Nelson; J. Robinson-Hamm

Auditorium

g

isease

ogenesis of mitochondrial disorders . Beninca; C. Viscomi

- Auditorium

depletion disorders lstad; J. Uddin; C. Dominguez; C. Paradas; R. Marti; C. Garone ses S. Williams; J. Stewart; D. Jantz; C. Moraes

cellular functions (O.7-12) – Auditorium

l adaptive response through distinct DNA methylation of nuclear genes Loos; H. Eiroa; P. Romano; M. Roque disease: selenoprotein N maintains endoplasmic tes mitochondrial bioenergetics iy; D. Pozzer; R. Villar; C. Dill; S. Dudhal; S. Fumagalli; M. De Simoni; E. Clementi; S. Missiroli; S. Boncompagni; E. Zito; A. Ferreiro target in inclusion body myositis n; D. Hilton-Jones; C. Fratter; J. Poulton positioning during muscle formation es; B. Cadot S patients Dumonceaux; G. Ouandaogo; G. TRANE study; F. Ratti; A. Mejat; A. Knoblach; C. Raoul; W. Duddy; P. Pradat; S. Duguez lattice organization in mdx skeletal muscle expressing mini- or

9) – Auditorium

hoser

ohumeral muscular dystrophy (FSHD)

rent efforts, bottlenecks and future prospects.

approaches and their readout (O.13-20) – Auditorium

hoser

y won; V. Gough; M. Gemberling


script

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. Bart-linken; J.

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O.14 A mutation-independent approach via trandystrophy in vivo D. Kemaladewi; P. Bassi; K. Lindsay; S. ErCohn

O.15 Humoral and cell mediated immune respondystrophin-deficient mdx mice K. Nagaraju ; M. Vila; J. Novak; J. Boehler;van den Anker; Y. Hathout; E. Hoffman; T.

O.16 Myostatin expression is a reliable and quandystrophy J. Dumonceaux ; V. Mariot; C. Le Guiner; I

O.17 ASPIRO phase 1/2 gene therapy trial In XN. Kuntz ; P. Shieh; B. Smith; C. BönnemanServais; S. Prasad

O.18 Significantly reduced muscle damage and iezutromid treatment F. Muntoni; G. Layton; I. Bhattacharya; K. Consortium & Phase Out DMD Study Grou

O.19 First-in-human intrathecal gene transfer stand interim analysis of efficacy D. Saade ; D. Bharucha-Goebel; M. Jain; MYing; M. Whitehead; R. Calcedo Del HoyoBönnemann

O.20 Results from ATB200-02: first-in-human, oPompe disease B. Schoser ; D. Bratkovic; B. Byrne; P. ClemSchwenkreis; K. Sivakumar; A. van der Plo


14:00-15:30 Symposium 4


DMD treatment, animal models (P.197-211)Chairpersons: Thomas Crawford and Craig

P.197 Antisense PMO treatment improves muscleprotocol in mdx mice W. Eilers ; K. Foster

P.198 Stabilised helical peptide-PMO conjugates W. Eilers ; A. Gadd; H. Foster; K. Foster

P.199 Microutrophin delivery shows phenotype imT. Egorova; D. Vlodavets ; A. Starikova; A. Deikin

P.200 Assessment of efficacy of a rAAV9-mini-dyDMDmdx rats C. Le Guiner; P. Moullier; M. McIntyre; T.G. LaRosa; R. Samulski

P.201 Early insights from ’Of Mice and Measureresearch in Duchenne muscular dystrophC57BL/10ScSn- Dmd mdx /J (Bl10/ mdx ) mouL. Dalle Pazze ; H. Gordish-Dressman

P.202 Low Kindlin-2 levels in patients and mouseJ. Konikov-Rozenman ; N. Yanay; M. Rabie

P.203 Exons 6 and 7 skipping test on new murinT. Egorova ; D. Reshetov; A. Polikarpova; S

P.204 R-DMDdel52, a novel preclinical rat modelM. Goddard; B. Drayton; F. Piétri-Rouxel;

P.205 Effect of PDE5 inhibition on the post-contrmuscle of dystrophic mice S. Forbes ; A. Batra; C. Baligand; K. Vande

P.206 Effects of sarconeos (API BIO101) on in viP. Dilda ; M. Serova; S. On; B. Didry-Barca

ional upregulation of a disease modifier gene rescues muscular

; E. Hyatt; K. Place; R. Marks; K. Gawlik; M. Durbeej; E. Ivakine ; R.

new dystrophin after morpholino-induced exon skipping therapy in

ogarth; A. Zhang; T. Kinder; D. Mazala; M. Benny Klimek; A. Fiorillo; J.idge le biomarker to monitor dose-dependent drug response in muscular

helemy; C. Hourdé; M. Montus; S. Blot; T. Voit d myotubular myopathy: preliminary safety and efficacy findings Dowling; M. Lawlor; W. Müller-Felber; M. Noursalehi; S. Rico; L.

mation observed in Duchenne muscular dystrophy patients following

enborne; C. Faelan; A. Heatherington ; D. Roblin; J. Tinsley; Imaging DMD Davies or giant axonal neuropathy: review of safety, immunologic responses

te; G. Norato; K. Cheung; A. Foley; A. Soldatos; D. Rybin; T. Lehky; H. acobson; E. Leibovitch; A. Nath; J. Grieger; R. Samulski; S. Gray; C.

bel, phase 1/2 study of ATB200 co-administered with AT2221 for

T. Geberhiwot; O. Goker-Alpan; P. Kishnani; X. Ming; T. Mozaffar; P. Wright; F. Johnson; S. Sitaraman; J. Barth; S. Sathe; M. Roberts

oster area

onald

very from fatigue after a novel in situ dynamic muscle contraction

ve dystrophin exon skipping in the heart of mdx mice

ement in mdx mice arpova; A. Smidt; N. Trushkin; E. Luckina; S. Vassilieva; E. Usachev; A.

in gene therapy candidate (PF-06939926) administered to aged

her; O. Adjali; A. LaFoux; G. Toumaniantz; J. Owens ; X. Xiao; M. Binks;

collaborative project to improve models and methods for preclinical its first focus on the D2. B10- Dmd mdx /J (D2/ mdx ) and

odels

el of Duchenne muscular dystrophy evo

del of Duchenne muscular dystrophy silieva; D. Vlodavets; A. Deikin uchenne muscular dystrophy

laix MRI blood-oxygenation-level-dependent (BOLD) effect in skeletal

e; G. Walter d in vitro models of Duchenne muscular dystrophy Latil; S. Veillet; R. Lafont


in bi

udi; S prog

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.212- Ferli

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F. Saro; L.chen. Tro

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P.207 Full-length but not truncated osteoprotegerforce A. Boulanger Piette ; L. Marcadet; D. Hamo

P.208 Therapeutic benefits of intravenous cardiacDuchenne muscular dystrophy R. Rogers ; M. Fournier; L. Sanchez; M. Am

P.209 Dystrophin expression in the rat urinary bJ. Lionarons; G. Hoogland ; R. Hendriksen;

P.210 Dystrophin expression in the rat intestine J. Lionarons; R. Slegers; J. Hendriksen; C.

P.211 Myostatin inhibition and growth factor treaphenotype coherently T. Nielsen; C. Hjortkaer; T. Pinos; J. Vissin

Duchenne muscular dystrophy - genetics (PChairpersons: Ieke Ginjaar and Alessandra

P.212 Mutational spectrum of the DMD gene in pM. Foncuberta ; F. Lubieniecki; L. Gravina;

P.213 The DMD Italian network: reporting 2127 care and personalized therapies M. Neri; A. Mauro; F. Gualandi; C. Bruno;Scuderi; V. Sansone; S. Messina; E. Pegora

P.214 Genetic profile of Chilean patients with DuS. Lara ; V. Saez; P. Santander; G. Fariña; M

P.215 Genetic modifiers of Duchenne muscular dL. Schottlaender ; J. Domingos; L. D’Argen

P.216 Genetic carrier screening for Duchenne mudisease incidence in New South Wales, AuH. Sampaio ; D. Kariyawasam; M. Buckley;

P.217 Duchenne and Becker muscular dystrophy to healthy controls S. Al Zaidy ; E. Camino; N. Miller; K. LehMah; J. Mendell

P.218 Heart and skeletal muscle affection in femaT. Solheim ; F. Fornander; R. Møgelvang; N

P.219 Duchenne and Becker muscular dystrophy M. Mah; L. Cripe ; S. Al-Zaidy; E. Camino

P.220 A neuropsychological and neuroimaging stuS. Passos; P. Tavares; T. Rezende; L. Souza

P.221 Unsolicited findings in the DMD gene; whaH. van Duyvenvoorde ; D. van Heusden; M.

P.222 Influence of the intronic breakpoint of the J. Poyatos; C. Gomis; N. Muelas; P. Marti;

P.223 Small mutation detection in the DMD geneL. Luce; M. Carcione; C. Mazzanti; L. Mes

P.224 Whole-genome sequencing reveals a complean intronic 0.5 Mb-insertion in a boy sufA. Ille ; W. Schmidt; M. Gosk-Tomek; S. W

Congenital myopathies: nemaline and titinoChairpersons: Ana Lia Taratuto and Ana F

P.225 Clinical, genetic and neuropathological heteJ. Martins; J. Oliveira; R. Taipa; C. Garrido

P.226 Functional nebulin studies for assessment oJ. Lehtonen ; S. Sofieva; J. Laitila; C. Wallg

P.227 Unraveling muscle slowness in NEM6 myopJ. de Winter ; J. Molenaar; M. van WilligenVoermans; C. Ottenheijm

P.228 Severe nemaline myopathy manifesting as ’A. D’Amico; F. Fattori; C. Fiorillo; M. Ver

P.229 Genetics and modeling of TNNT1 genetic vC. Konersman ; A. Aykanat; E. Troiano; A.

P.230 Clinical, genetic and pathological charactermyopathy D. Steel; A. Sarkozy ; R. Mein; R. Phadke;

nds directly to muscle cells and increases rapidly dystrophic muscle

. Bossé; A. Argaw; J. Frenette enitor cell and exosome-based therapies in a mouse model of

deh; E. Marban r ber; D. Hellebrekers; G. Van Koeveringe; S. Schipper; J. Vles

; G. Hoogland ; J. Vles t of pre- and post-disease onset mdx mice does not improve the

Krag

224) ni

tric patients from an Argentinian referral center onzález Quereda; P. Gallano; L. Chertkoff; S. Monges ic diagnoses of referred dystrophinopathies, reflections and impact on

ntorelli; S. Tedeschi; A. D’Amico; E. Giardina; M. Castori; M. Cau; C. Politano; E. Bertini; G. Comi; V. Nigro; E. Mercuri; A. Ferlini ne muscle dystrophy ncoso; G. Legaza hy Zaharieva; P. Ala; A. Manzur; J. Bourke; J. Morgan; F. Muntoni r dystrophy: the outcome of over forty years of genetic counselling on ia owat; J. Robinson; P. Taylor; K. Jones; M. Farrar

er mothers: characterization of skeletal and cardiac muscle compared

L. Lowes; L. Alfano; M. Iammarino; J. Alexander; L. Cripe; K. Hor; M.

rriers of a dystrophin gene mutation lsen; A. Andersen; A. Eisum; M. Duno; H. Bundgaard; J. Vissing ers: emerging evidence for a clinically important cardiomyopathy lawinski; J. Jackson; J. Mendell; K. Hor

f female carriers of DMD mutations osa; C. Iwabe-Marchese ; A. Nucci; M. França Jr the implications? er; H. Ginjaar 45-55 exon deletion on the clinical phenotype lchez hole exome sequencing of Argentine dystrophinopathy children Dubrovsky ; F. Giliberto ra-chromosomal rearrangement disrupting the dystrophin gene due to from Duchenne muscular dystrophy

M. Freilinger; R. Bittner; G. Bernert

ies (P.225-244) o

neity in a pediatric cohort with nemaline myopathy Melo Pires; M. Santos hogenicity ettersson; M. Grönholm; K. Pelin; V. Lehtokari : a key role for the skeletal muscle thin filament S. Conijn; S. Lassche; T. Irving; K. Campbell; B. Van Engelen; N.

h phenotype’ related to homozygous mutation in TNNT1 M. Catteruccia; E. Bellacchio; M. Moggio; C. Bruno ; E. Bertini ts in nemaline myopathy s n of a wide cohort of UK patients with NEB gene related nemaline

wry; F. Muntoni


ngs inY. Yutationrochi

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Nowto ideres; M

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lort; Sonsetela; M

P.231 The clinical, genetic, and pathological findiZ. Wang ; Z. Hu; W. Zhang; H. lv; M. Yu;

P.232 Core and rod myopathy due to a novel muM. Garibaldi ; F. Fattori; C. Bortolotti; G. BG. Antonini

P.233 Comparison of new mouse models with difJ. Laitila ; E. McNamara; H. Goullee; C. WLaing; C. Wallgren-Pettersson; K. Pelin; K.

P.234 Proteomic profiling in nemaline myopathy E. Siebers ; J. Tinklenberg; H. Meng; S. AyMontanaro; M. Lawlor

P.235 Recessive congenital fiber type disproportioC. Moreno; E. Estephan ; O. Abath Neto; C

P.236 Congenital fiber type disproportion with mD. Namgung ; J. lee; W. Kim; Y. Choi

P.237 Congenital fatal cap-rod myopathy due to R. Phadke ; B. Herron; D. Hurrell; S. Craig

P.238 The international database of titin gene vaP. Hackman ; M. Savarese; C. Bönnemann; J. Nikodinovic Glumac; H. Jungbluth; S. Fo

P.239 Congenital titinopathy: severe and atypicalE. Oates ; K. Jones; S. Coppens; N. DeconinThomas; S. Ellard; I. Mazanti; S. Cooper; F

P.240 Distal upper limb onset myopathy in the fiL. González-Quereda; M. Fuentealba; J. Dí

P.241 Loss of sarcomeric scaffolding as a commoE. Malfatti ; R. Avila-Polo; X. Lornage; I. NLubieniecki; G. Brochier; A. Madelaine; C.Romero

P.242 Neonatal presentations of recessive TTN -reS. Neuhaus ; S. Donkervoort; M. Leach; S.

P.243 Taking on the titin: semitendinosus musclemyopathy S. Neuhaus ; L. Hayes; D. Saade; S. DonkeIannaccone; C. Grosmann; A. Beggs; A. Fo

P.244 A ddPCR method for the analysis of copy giants nebulin and titin L. Sagath ; V. Lehtokari; C. Wallgren-Petter

Myofibrillar and distal myopathies (P.245-2Chairpersons: Montse Olivé and Hans-Hilm

P.245 Assessment of new lectin-based protocols foY. Parkhurst; R. Barresi

P.246 GNE myopathy in Chinese population: hotY. Chen; J. Xi; W. Zhu ; J. Lin; S. Luo; D.

P.247 Clinical and genetic profiles of GNE myopaJ. Shin ; Y. Park; J. Lee; D. Kim

P.248 A novel exon 1 deletion mutation in the GNJ. Miao; X. Liu; F. Su; X. Wei; Z. Kang; Y

P.249 A novel mutation in MYH7 giving rise to dK. Orstavik ; V. Almaas; M. Rasmussen; C.

P.250 The clinical, myopathological characteristicY. Luo; Q. Li; H. Duan; F. Bi; H. Yang

P.251 Family with a new mutation in the DES geP. Marti; N. Muelas ; I. Azorin; J. VIlchez

P.252 A case report: a heterozygous deletion (279myofibrillar myopathies J. Miao; X. Wei; Z. Kang; Y. Gao; X. Yu

P.253 Severe intestinal pseudo-obstruction in a Rmuscle involvement in myofibrillar myopaE. Cabet; D. Delacour; C. Hakibilen; F. De

P.254 PYROXD1 mutations cause recessive adult-J. Palmio ; M. Sainio; S. Välipakka; M. JokTyynismaa

a Chinese cohort of patients with hereditary nemaline myopathy an in BTB domain of KBTBD13 gene presenting as LGMD

er; C. Labasse; M. Verardo; E. Bertini; E. Pennisi; C. Paradas; N. Romero;

t variants in the nebulin gene ; M. Lawlor; J. Ross; J. Ochala; L. Griffiths; G. Ravenscroft; C. Sewry; N.ak ntify disease subclass biomarkers . Vanden Avond; R. Slick; K. Nowake; H. Granzier; E. Hardeman; F.

sed by TPM3 mutation elo; A. Silva; U. Reed; C. Bönnemann; E. Zanoteli ns in tropomyosin 3 ( TPM3 ) gene presenting as respiratory failure

novo autosomal dominant pathogenic ACTA1 variant elly; A. Sarkozy; C. Sewry; F. Muntoni; V. McConnell

ns and their phenotypes rreiro; A. Beggs; J. Dawson; R. Thompson; T. Evangelista; H. Lochmüller; . Udd

entations . Ravenscroft; H. Luk; M. Bakshi; J. Pinner; N. Foulds; M. Illingworth; N.

ntoni; M. Davis; N. Laing hilean case reported with titinopathy . Trangulao; P. Gallano; J. Bevilacqua eline histopathologic lesion in titin-related myopathies ; J. Nectoux; J. Bohm; C. Hedberg-Oldfors; B. Eymard; S. Monges; F. sse; A. Taratuto; B. Udd; F. Leturcq; G. Bonne; A. Oldfors; J. Laporte; N.

myopathy: an emerging distinct clinical phenotype conne; C. Konersman; D. Saade; A. Foley; C. Bönnemann vement as a diagnostic marker of early onset recessive TTN -related

; P. Mohassel; J. Dastgir; D. Bharucha-Goebel; M. Leach; C. Vuillerot; S. . Bönnemann er variation in the segmental duplication regions of the sarcomeric

K. Pelin; K. Kiiski

oebel

diagnosis of GNE myopathies

and novel mutations S. Cai; C. Sun; C. Zhao; S. Mitsuhashi; I. Nishino; M. Xu; J. Lu n Korean patients

ne in a GNE myopathy patient ; X. Yu nt phenotypes in a mother and her daughter ud; S. Jensen; S. Loseth; T. Leren Chinese cohort of myofibrillar myopathy: a retrospective study

autosomal recessive transmission

05 del) in exon 18 of the FLNC gene causing filamin C-related

desmin knock-in model: a new phenotype leads to light smooth

. Pichon; P. Vicart; A. Ferreiro ; A. Lilienbaum

slowly progressive LGMD

. Auranen; A. Paetau; S. Huovinen; H. Lapatto; E. Ylikallio; B. Udd; H.


6) rd Fin

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SMA therapies II and biomarkers (P.255-26Chairpersons: Susan Iannaccone and Richa

P.255 SUNFISH Part 1: RG7916 treatment resultresults in patients with type 2 or 3 SMA

E. Mercuri ; G. Baranello; J. Kirschner; L. SM. Gerber; C. Czech; Y. Cleary; K. Gorni;

P.256 A study of RG7916 in infants with pre-symE. Bertini; J. Day; M. Al Muhaizea; H. Xio

P.257 JEWELFISH: RG7916 increases SMN protSMN2 splicing C. Chiriboga ; E. Mercuri; D. Fischer; D. KK. Gorni; O. Khwaja

P.258 FIREFISH Part 1: early clinical results folwith RG7916 G. Baranello ; L. Servais; J. Day; N. DeconArmstrong; T. Seabrook; C. Czech; M. Ger

P.259 SMN protein levels before and after treatmsubjects H. Kletzl ; C. Czech; Y. Cleary; S. Sturm; AKlein; B. Darras; R. Masson; J. Kirschner;

P.260 A long-term, open-label, follow-up study ofparticipated in a placebo-controlled phasF. Muntoni; S. Fuerst-Recktenwald; E. BertIves; W. van der Pol; C. Vuillerot; K. Gorn

P.261 Safety and efficacy of the oral splice moduN. Deconinck ; A. Born; G. Baranello; E. BPraestgaard; R. Roubenoff; U. Schara

P.262 Phosphorylated neurofilament heavy chain potential biomarker of SMA disease activT. Crawford ; C. Sumner; R. Finkel; D. De

P.263 Neurofilament light chain as a potential bioH. Jullien de Pommerol ; A. Kieloch; D. Le

P.264 Circulating microRNAs as biomarkers in SI. Zaharieva ; M. Lauffer; E. Bollen; K. Ara

P.265 Patients with spinal muscular atrophy withA. Ille ; A. van Egmond-Fröhlich; S. Weiss;

P.266 Neurofilament as a potential biomarker forT. Crawford ; C. Sumner; M. Petrillo; C. Ste

Metabolic myopathies I (P.267-277) Chairpersons: Ros Quinlivan and Corrado

P.267 Local experience of hyperCKaemia in a muH. Sampaio ; M. Farrar; A. Al Safar

P.268 Reduced skeletal muscle fat oxidation duriD. Raaschou-Pedersen ; K. Madsen; M. Stem

P.269 Neutral lipid storage disease with myopathY. Yuan ; C. Yan; C. Zhao; J. Hu; C. Zhang

P.270 Lipid storage disorder-Proteomic analysis oN. Gayathri ; B. Debashree; K. Manish KumBharath

P.271 MicroRNA dysregulation and signalling in C. Angelini ; R. Marozzo; V. Pegoraro

P.272 No effect of triheptanoin on exercise perforcrossover study K. Madsen ; P. Laforêt; A. Buch; M. StemmC. Jardel; R. Quinlivan; F. Mochel; J. Vissi

P.273 Delineating the phenotypic spectrum of PGA. Echaniz-Laguna ; Y. Nadjar; A. Béhin; V

P.274 Heterozygous mutation in ISCU associated C. Gitiaux; S. Gobin-Limballe; I. Desguerre

P.275 A case of late-onset multiple acyl-coenzymeD. Pehl ; A. von Renesse; L. Harms; H. Go

P.276 Electron transfer flavoprotein-ubiquinone oacyl-CoA dehydrogenation deficiency J. Xu; D. Li; J. Lv; X. Xu; B. Wen; P. Lin

kel

a sustained increase of SMN protein levels and the first clinical efficacy

s; N. Goemans; M. Carmela Pera; J. Buchbjerg; G. Armstrong; H. Kletzl; hwaja atic spinal muscular atrophy . Servais; A. Prufer; J. Buchbjerg ; G. Armstrong; K. Gorni; O. Khwaja patients with SMA that have previously received therapies targeting

N. Thompson; G. Armstrong; H. Kletzl; M. Gerber; Y. Cleary; T. Bergauer;

g a significant increase of SMN protein in SMA type 1 babies treated

E. Mercuri; A. Klein; B. Darras; R. Masson; H. Kletzl; Y. Cleary; G. . Gelblin; K. Gorni; O. Khwaja ith RG7916 in type 1, 2 and 3 SMA patients compared to healthy

nther; G. Baranello; E. Mercuri; L. Servais; J. Day; N. Deconinck; A. emans; M. Pera; C. Chiriboga; D. Fischer; K. Gorni; O. Khwaja xime in patients with type 2 or non-ambulatory type 3 SMA who ial . Mercuri; J. Kirschner; C. Reid; A. Lusakowska; G. Comi; J. Cuisset; J. ontoura branaplam in type 1 spinal muscular atrophy

; H. Jullien de Pommerol; B. Gomez Mancilla; N. Goemans; R. Pingili; J.

-H) levels in infants and children with SMA: evaluation of pNF-H as a

M. Oskoui; E. Tizzano; G. Zhao; M. Petrillo; C. Stebbins; W. Farwell er in spinal muscular atrophy T. Peters; D. Theil; M. Valentin; E. Voltz za treated SMA patients awinska; L. Servais; M. Scoto; H. Zhou; F. Muntoni ardiac disease show elevated cardiac troponin T

osk-Tomek; M. Foedinger; S. Peithner; G. Bernert al muscular atrophy: rationale based on animal and human studies ; W. Farwell

ini

sciplinary neuromuscular clinic

ercise in an adult with LPIN1 -deficiency k; A. Eisum; J. Vissing nical and genetic spectrum in a large cohort of Chinese patients

letal muscle mitochondria . Keshava Prasad; N. Archana; C. Rita; A. Nalini; P. Bindu; M. Srinivas

storage myopathies

e in patients with McArdle disease - a double blind placebo-controlled

S. Hatem; D. Raaschou-Pedersen; N. Poulsen; M. Atencio; C. Ottolenghi;

sociated phosphoglycerate kinase deficiency: the French experience calana; M. Piraud; P. Laforêt recurrent rhabdomyolysis

Barnerias; P. De Lonlay; F. Authier ehydrogenase deficiency in a young female of Turkish descent M. Schuelke; W. Stenzel eductase defect and FAD homeostasis in riboflavin-responsive multiple

iu; K. Ji; J. Shan; W. Li; Y. Zhao; J. Pok; C. Yan


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P.277 A curable myopathy manifesting as exercisA. Silva ; R. Mendonça; D. Soares; D. Calle

Registries and care of neuromusular disordChairpersons: Helen Roper and Tahseen M

P.278 How can we ensure children with neuromuL. McAdam ; D. Greenspoon; K. Bell; K. E

P.279 A four-year review of a Canadian pediatricK. Amburgey ; H. Gonorazky; J. Dowling

P.280 Registry of neuromuscular genetic disorderS. Artemyeva ; D. Vlodavets; A. Monakhova

P.281 Participation and its determinants in childrC. de Montferrand ; M. Morard; C. Pons-Be

P.282 Drop-out in longitudinal natural history stuM. Annoussamy ; D. Ho; A. Seferian; T. Gi

P.283 The development of a Brazilian PortugueseM. Voos ; D. Almeida; A. Silva; P. Santos;

P.284 Quantifying activity changes of neuromuscstudy C. Bleyenheuft; N. Goemans ; S. Wanyama; den Bergh; S. Paquay; L. Servais; A. MaertBNMDR study group; C. Arnould

P.285 Validation of the Brazilian Portuguese versneuromuscular diseases in children from

A. Pedrosa; V. Van der Linden; C. Iwabe-MP.286 A new minimally invasive fusionless techni

M. Gaume; R. Sauvagnac; S. Quijano-Roy ;Haegy; J. Bergounioux; I. Desguerre; L. M

P.287 Mechanically assisted cough - how to keepS. Zacher ; A. van Egmond-Fröhlich; S. We

P.288 Diagnosis, management and outcome of sevM. Sa ; R. Biancheri; N. McCrea; R. Phadk

P.289 Patients experience of diagnosis of a genetiM. Rodrigues ; R. Roxburgh; G. O’Grady; G

P.290 Audit of impact of the quality of the pre-teK. Urankar ; A. Kanagasabai; S. Brady

P.291 Clinicopathological study for ultrasound-guT. Kurashige ; T. Kanbara; N. Sumi; S. Tasa

P.292 Skeletal muscle NMR image automatic segE. Sneszhko; P. Baudin; P. Carlier

P.293 A novel, ultrafast and robust NMR imaginskeletal muscle using an optimal fingerprB. Marty; P. Carlier

P.294 Muscle biopsy in the study of muscle diseaR. Escobar; R. Gejman; C. Jaque ; M. Beyti

P.295 HyperCKemia asymptomatic or oligosymptM. Garcia Erro; E. Cavassa; J. Muntadas; M

P.296 ICD code refinement for Duchenne/Becker A. Kennedy; R. Valdez; C. Westfield; J. Bo

P.297 Treatment responsive outcome measures inA. Mullen ; K. Uaesoontrachoon; S. SrinivasMalbasic; M. Barkhouse; J. Warford; D. Sh

P.298 Development of a microRNA-155 inhibitor D. Escolar ; M. Hermreck; H. Semus; D. Ho


Duchenne muscular dystrophy - physiotherChairpersons: Linda Lowes and Imelda de

P.299 Minimal detectable change in the North StF. Muntoni ; A. Manzur; A. Mayhew; NorthS. Ward

P.300 Prognostic factors for changes in 4-stair cliN. Goemans ; B. Wong; J. Signorovitch; G.

lerance and respiratory failure V. Caldas; M. Carvalho; E. Zanoteli

P.278-298) r

r conditions achieve personally meaningful futures? ; S. Keenan; A. McPherson

romuscular clinic

Russia Melnik; I. Shulyakova; O. Shidlovskaya; E. Belousova; D. Reshetov ith neuromuscular disease r; J. Ropars; P. Rippert; C. Vuillerot in neuromuscular diseases: rates and main rationale k. Aragon; L. Vanden Brande; L. Servais ion of the activity limitations scale (ACTIVLIM) ed; E. Zanoteli atients using the ACTIVLIM questionnaire: a 5-years longitudinal

n Damme; J. De Bleecker; R. Van Coster; P. De Jonghe; D. Beysen; P. Vane Noordhout; J. Haan; L. De Meirleir; G. Remiche; N. Deconinck;

f the motor function measure - short form (MFM-20) for o seven years old se; M. Voos ; E. Zanoteli; J. Teixeira; E. Araújo; U. Reed

hat avoid vertebral arthrodesis for neuromuscular scoliosis zzi-Sallameh; I. Dabaj; A. Bénézit; B. Mbieleu; D. Verollet; A. Essid; I. C. Glorion ple

. Guenther ongenital onset neuromuscular disorders in a series of 50 infants Pitt; A. Manzur; P. Munot scle disorder e; A. Theadom

formation on the outcome of muscle biopsy assessment

biopsy cases using linear probe . Sugiura; H. Maruyama; T. Torii tion using convolutional neural network

roach to evaluate disease activity and chronic degenerative changes in radial sequence

pediatric population Avila; J. Casar; O. Trujillo; R. Fadic ic in an Argentinian neuropediatric cohort uni; G. Vazquez ular dystrophy . Kinnett; D. Perez; P. Furlong

se models of neuromuscular disease M. Moraca; W. Ross; A. MacKinnon; C. Bell; E. Gillis; J. Rowsell; M. . Hoffman; K. Nagaraju therapeutic for neuroinflammatory and neurodegenerative diseases . Jackson

oster area

P.299-322)

bulatory assessment (NSAA) in Duchenne muscular dystrophy (DMD) linical Network; J. Signorovitch; G. Sajeev; Z. Yao; I. Dieye; M. Jenkins;

bility in patients with Duchenne muscular dystrophy v; M. Jenkins; I. Dieye; Z. Yao; I. Hossain; S. Ward


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P.301 Home based movement monitoring allows pmeasures L. Servais ; E. Gasnier; M. Grelet; T. Gidaro

P.302 Genetic association study of articular rangT. Duong ; L. Bello; E. Henricson; E. Hoffm

P.303 Development of a conversion method to enDuchenne muscular dystrophy patients V. Selby ; V. Ricotti; A. Mayhew; D. RidouMuntoni

P.304 Relationship of lower extremity strength anT. Duong ; H. Gordish-Dressman; M. Pavlvo

P.305 Disease progression in arm versus leg muscH. Arora; R. Willcocks; S. Forbes ; W. TripBrandsema; H. Sweeney; G. Walter; K. Van

P.306 Utility of the Bayley-III, North Star Ambudelay in very young boys with Duchenne N. Miller ; L. Alfano; M. Iammarino; M. DuMendell; L. Lowes

P.307 Relationships between hand strength and fspinal muscular atrophy V. Decostre; M. Anoussamy; M. De Antoni

P.308 Determination of the minimal clinically immuscular dystrophy J. Pitchforth ; J. Domingos; M. Iodice; A. M

P.309 The effects of trunk and lower extremity flL. Akkurt; G. Aydin ; I. Alemdaroglu Gürbü

P.310 The comparison of children with Duchenneextremity functions N. Bulut ; G. Aydin; i. Alemdaroglu Gürbüz

P.311 The effect of kinesiologic taping on balanceG. Aydin ; I. Alemdaroglu Gürbüz; N. Bulut

P.312 Factors influencing spontaneous maximal sC. Lilien ; M. Grelet; E. Gasnier; T. Gidaro;

P.313 Use of a powered arm support devices for dystrophy R. Bendixen ; A. Kelleher; M. Feltman; N.

P.314 Kinematic/behavioural fingerprints in DuchV. Ricotti ; S. Haar; V. Selby; T. Voit; A. Fa

P.315 Stride to height ratio as a new ambulatoryE. Henricson; R. Abresch; A. Bagley; E. G

P.316 Utility of ACTIVE workspace volume as a neuromuscular disease M. Iammarino ; L. Alfano; N. Miller; M. DuRodino-Klapac; J. Mendell; L. Lowes

P.317 Clinically meaningful change on the 100-mL. Alfano ; N. Miller; M. Iammarino; K. BeM. Waldrop; K. Flanigan; J. Mendell; L. Lo

P.318 Insights from a multisite study utilizing demeasure for Duchenne muscular dystrophC. Zaidman; K. Kapur; B. Darras; B. Wong

P.319 Can we use elastic bandage in children witC. Iwabe-Marchese ; N. Morini Jr; c. Sanch

P.320 Trunk movement and muscle activity in chL. Peeters; I. Kingma; J. van Dieën; I. de G

P.321 Bringing the spoon to the mouth or the mofeeding in Duchenne muscular dystrophyM. Artilheiro; E. Oliveira; N. Carvas Junior

P.322 Development of dynamic trunk and head sL. Peeters; M. Mahmood; S. Verros; H. Ko

Congenital muscular dystrophies (P.323-334Chairpersons: Haluk Topaloglu and Soledad

P.323 Review of the natural history of mental dewritten questionnaire from their families M. Shichiji ; K. Ishigaki; T. Sato; A. Yamas

l trials in DMD with ten times less patients than classical outcomes

Seferian; D. Vissieres otion in the CINRG Duchenne natural history study . McDonald; H. Gordish-Dressman; CINRG Investigators n accurate PUL v.2 score from PUL v.1.2 data in a cohort of

itchforth; E. Niks; L. Servais; I. de Groot; V. Straub; E. Mercuri; F.

nge of motion on timed function tests in Duchenne muscular dystrophyM. Fensterwald; C. McDonald; E. Henricson; CINRG Investigators Duchenne muscular dystrophy . Rooney; D. Wang; M. Daniels; E. Finanger; G. Tennekoon; J.

orne Assessment, and 100-meter timed test in quantifying gross motor ular dystrophy M. Moore-Clingenpeel; S. Al-Zaidy; C. Tsao; M. Waldrop; K. Flanigan; J.

n in non-ambulant patients with Duchenne muscular dystrophy or

Canal; L. Servais; JY. Hogrel nt difference (MCID) for clinical trial outcome measures in Duchenne

w; F. Muntoni ity on lumbar lordosis in children with Duchenne muscular dystrophy Karaduman; H. Topaloglu; Ö. Yilmaz cular dystrophy and healthy peers in terms of pulmonary and upper

araduman; H. Topaloglu; O. Yilmaz uchenne muscular dystrophy

Karaduman; H. Topaloglu; O. Yilmaz speed in individual Duchenne muscular dystrophy boys eferian; A. Rigaud; D. Vissière; L. Servais r limb function in non-ambulatory men with Duchenne muscular

muscular dystrophy and their clinical applications

ome measure in Duchenne muscular dystrophy C. Owens; L. Williams; C. McDonald ally meaningful measure of functional capacity in individuals with

M. Moore-Clingenpeel; S. Al-Zaidy; C. Tsao; M. Waldrop; K. Flanigan; L.

imed test in neuromuscular diseases . Moore-Clingenpeel; M. Dugan; S. Al-Zaidy; C. Tsao; L. Rodino-Klapac;

d technology to assess electrical impedance myography as an outcome

Yang; M. Leitner; L. Dalle Pazze ; M. Buck; L. Freedman; S. Rutkove chenne muscular dystrophy by therapy taping methods? Pilot study Rosa with Duchenne muscular dystrophy when performing daily activities

o the spoon? The analysis of compensatory movements of simulated se-control study avero; F. Caromano; C. Sá; M. Voos tive devices for children with neuromuscular disorders

n; I. de Groot ; Symbionics working group

ges

ment in Fukuyama congenital muscular dystrophy patients, based on a

S. Nagata


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P.324 Clinical characteristics and long-term courA. Silwal; M. Scoto; D. Ridout; A. SchmidManzur; F. Al-Ghamdi; C. Genetti; F. AbelH. Topaloglu ; A. Beggs; F. Muntoni

P.325 Severe loss of semimembranosus muscle burecognition of early-onset muscle disordeF. Munell ; D. Gomez-Andres; A. Sanchez-MOlivé

P.326 Minimal clinically important difference fordystrophy and congenital myopathy L. Le Goff; M. Fink; G. Norato; P. RippertBönnemann; C. Vuillerot

P.327 A model for dominant-mutated collagen VIS. Noguchi ; M. Ogawa; I. Nishino

P.328 Pneumothorax in Ullrich congenital muscuY. Arahata ; A. Ishiyama; M. Ogawa; S. NoNishino

P.329 CALLISTO: a phase I open-label, sequentiLAMA2 and COL6 -related dystrophy patA. Foley ; M. Leach; G. Averion; Y. Hu; P. Mayer; R. Hausmann; D. Petraki; K. Cheun

P.330 Long-term motor function in collagen VI-rclassification proposal D. Natera - de Benito; R. Foley; J. Diaz-MCarrera-Garcia; M. Alarcón; J. Milisenda; RBönnemann; A. Nascimento

P.331 Longitudinal changes of motor outcome meM. Jain ; K. Meilleur; G. Norato; M. Waite;

P.332 Dynamic breathing MRI: A promising biomLAMA2 -related dystrophy patients P. Yun; G. Norato; N. Hsieh; R. Zhu; J. Da

P.333 Laminin α1 chain overexpression has potenK. Gawlik ; V. Harandi; R. Cheong; A. Pete

P.334 Recessive loss-of-function mutations in ITGand respiratory muscle weakness E. Bugiardini; R. Phadke ; R. Maas; A. PittmLopes; T. Fotelonga; H. Houlden; P. Elliott;

CMT and neurogenic disease (P.335-347) Chairpersons: Michael Shy and Peter Van d

P.335 Guillain-Barré syndrome subtype diagnosisP. Van den Bergh ; F. Piéret; J. Woodard; S.Van Parijs; D. Verougstraete; P. Jacquerye;

P.336 Imaging findings in patients with Guillain-P. Massaro Sanchez ; A. Savransky; C. Rugi

P.337 Giant axonal neuropathy presenting as CMD. Saade ; D. Bharucha-Goebel; G. Norato; Donkervoort; S. Neuhaus; Y. Hu; T. Lehky;

P.338 X-linked Charcot-Marie-Tooth case with a J. Lee ; J. Shin

P.339 Preliminary phase 2 results for ACE-083, lM. Shy ; D. Herrmann; F. Thomas; C. QuinD’Eon; B. Miller; C. Glasser; M. Sherman;

P.340 Distal arthrogryposis, peripheral neuropathTRPV4-pathy I. Öncel; Q. Loic; G. Haliloglu; J. Melki; H

P.341 Case report: CMT2D with intermediate paE. Estephan ; P. Sampaio; F. Souza; M. Roc

P.342 Molecular characterization in Charcot-MarE. Cavassa; M. Muntadas; M. Pauni; M. Ga

P.343 Colchicine induced neuromyopathy in a paS. Ho ; D. Bae

P.344 Lipodystrophy and muscle hypertrophy O. Ekmekci ; M. Argin; H. Karasoy

P.345 Serum auto-antibody positivity induced by R. Al-dahhak ; J. Conway; L. Bostan-Shirin

selenoprotein N1 related myopathy in a large multi-centric cohort Laverty; M. Henriques; L. D’Argenzio; M. Main; R. Mein; A. Sarkozy; A. aliloglu; D. Ardicli;

an early phenomenon in SEPN1-related muscle disorders: toward early imaging ñez; L. Costa Comellas; S. Ferrer-Aparicio; P. Romero; S. Quijano-Roy; M.

otor Function Measure in patients with congenital muscular

eilleur; R. Foley; M. Jain; M. Waite; S. Donkervoort; C.

ted disorder and allele-specific gene silencing therapy

ystrophy ; R. Tanaka; E. Takeshita; Y. Shimizu-Motohashi; H. Komaki; Y. Saito; I.

oup, cohort study of pharmacokinetics and safety of omigapil in

S. Neuhaus; D. Saade; C. Arevalo; M. Fink; J. DeCoster; C. Mendoza; O. Bönnemann myopathies is associated with the maximal motor ability achieved: a

; M. Fink; A. Mebrahtu; J. Minal; S. Donkervoort; Y. Hu; D. Cuadras; L. minguez; M. Olive; C. Jou; J. Colomer; C. Jimenez-Mallebrera; C.

es in individuals with COL6 -RDs and LAMA2 -RD

each; S. Donkervoort; A. Foley; C. Bönnemann r of diaphragmatic function in COL6 -related dystrophy patients and

M. Leach; S. Donkervoort; J. Yao; A. Arai; C. Bönnemann; A. Foley broad therapeutic spectrum for LAMA2 -CMD

M. Durbeej use cardiac arrhythmia with or without structural cardiomyopathy

B. Kusters; J. Morrow; M. Parton; A. Nunes; M. Akhtar; P. Syrris; L. anna; J. Raaphorst; D. Burkin; E. Matthews

ergh

rospective multicentric European study ian; A. Grapperon; G. Nicolas; M. Brisset; J. Cassereau; Y. Rajabally; V. mackers; C. Redant; C. Michel; E. Delmont syndrome

Monges esults from the NIH natural history study ley; M. Waite; M. Jain; S. Debs; R. Vasavada; C. Nichols; R. Kaur; S. ray; M. Fink variant in GJB1

uscle therapeutic, in patients with CMT1 and CMTX

Statland; D. Walk; N. Johnson; S. Subramony; C. Karam; T. Mozaffar; S. ttie

d an autosomal dominant pedigree leading to a diagnosis of

aloglu . an expanding phenotype? . Zanoteli; W. Marques Jr oth in Argentina: 121 case series Erro; G. Vazquez using concomitant diuretics

venous immunoglobulin (IVIG) infusion


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P.346 Small molecule image-based screen identifiS. Cao; S. Parelkar; H. Ko; P. Thompson; L

P.347 Feasibility and validation of modified oculoN. Goyal ; M. Wencel; N. Araujo; E. Medin

Metabolic myopathies II (P.348-358) Chairpersons: Antonio Toscano and Claudio

P.348 Identification of late-onset Pompe disease wK. Ogata ; M. Kosuga; E. Takeshita; T. MatKobayashi; H. Takada; A. Hattori; M. Taka

P.349 Late-onset Pompe disease: still a missing dM. Oliveira Santos ; I. Conceição

P.350 A novel hybrid promote directing AAV-medoptimized outcomes in a mouse model ofG. Heffner; L. James; C. Chaivorapol; M. M

P.351 Exploring study design and endpoint selecttherapy in patients with infantile and latS. Rico ; B. Schoser; D. Dimmock; M. Law

P.352 A novel recombinant human acid alpha-gluto greater substrate reduction and improin Gaa KO mice Y. Lun ; S. Xu; R. Soska; A. Nair; M. FrascValenzano; R. Khanna

P.353 Dissecting late onset Pompe disease outcomJ. Corderí; F. Chloca; A. Jáuregui; D. Flore

P.354 Safety and efficacy of recurrent inspiratoryS. Wenninger ; E. Greckl; H. Babacic; B. Sc

P.355 Glycogen storage disease type IV: a wide cH. Kölbel ; A. Della Marina; O. Kaiser; F. S

P.356 Lower limb muscle strength and function iV. Decostre; P. Laforêt; K. Kachetel; A. Ca

P.357 Expression analysis of glycogenin-1 and glyK. Visuttijai ; C. Thomsen; C. Hedberg-Oldf

P.358 The diagnostic value of hyperCKemia induJY. Hogrel ; C. Chéraud; I. Ledoux; G. Olliv

FSHD/OPMD/EDMD/DM1 (P.359-371) Chairpersons: Julie Dumonceaux and Scott

P.359 Evaluation of dynamic movement orthoses facioscapulohumeral muscular dystrophy P. Drivsholm ; L. Busk; T. Nybro; U. Werla

P.360 Longitudinal MR evaluation of inflammatodystrophy J. Dahlqvist ; N. Poulsen; S. Oestergaard; F.

P.361 Estimating thigh muscle volume using bioeassessed by nuclear magnetic resonance iD. Bachasson; J. Mosso; B. Marty; P. Carli

P.362 Regulation of facioscapulohumeral musculaJ. Eidahl ; L. Zhang; M. Hoover; O. Branso

P.363 Progressive myopathy in a new mouse modtargeted molecular therapies C. Giesige ; L. Wallace; K. Heller; J. EidahlJ. Domire; D. Mukweyi; S. Garwick-Coppe

P.364 Natural microRNAs as potential modifiers N. Saad ; M. Al-Kharsan; S. Garwick-Coppe

P.365 Results for a dose-escalation phase 2 studyfacioscapulohumeral muscular dystrophy J. Statland ; E. Bravver; C. Karam; L. ElmaAmato; C. Campbell; A. Genge; G. Manou

P.367 BB-301: a single "silence and replace" AAVV. Strings-Ufombah; A. Malerba; S. HarbarRoelvink; G. Dickson; C. Trollet; D. Suhy

P.368 Clinical characteristics of 4 patients with cA. Ishiyama ; S. Kusabiraki; M. Inoue; Y. O

dulators of PML nuclear body phenotype in ALS models ward r facial erspiratory score (mOBFRS) in amyotrophic lateral sclerosis Nguyen; L. Zhang; T. Mozaffar

no

ationwide high-risk screening study in Japan a; K. Ishigaki; S. Ozasa; H. Arahata; K. Sugie; T. Takahashi; S. Kuru; M. N. Tanaka; T. Kimura; M. Funato; T. Okuyama; H. Komaki sis?

expression of acid alpha-glucosidase to liver, muscle and CNS yields pe disease . Stinchcombe; J. Ton; B. Schoser; H. Meng; M. Lawlor; S. Prasad; J. Gray evaluate safety, preliminary efficacy, and dose selection of AAV8 gene

et Pompe disease . James; M. Morton; S. Prasad ase, ATB200, co-administered with a pharmacological chaperone, leads

nt in Pompe disease-relevant markers compared to alglucosidase alfa

A. Garcia; A. Ponery; J. Feng; C. Della Valle; R. Gotschall; H. Do; K.

hat are we measuring? Dubrovsky cle training in late onset Pompe disease

l range of neuromuscular phenotypes g; J. Weis; A. Abicht; U. Schara

ross-sectional study of patients with glycogen storage disease type IIIa . Ollivier; F. Petit; P. Labrune; JY. Hogrel in-2 in patients with glycogen storage disease XV

. Oldfors y the non-ischemic forearm exercise test . Ben Yaou; F. Leturcq; A. Behin; T. Stojkovic; B. Eymard; P. Laforet

er

O) as a means to relieve pain and fatigue in patients with

ions in muscle of patients with facioscapulohumeral muscular

ander; A. Eisum; C. Thomsen; J. Vissing cal impedance analysis with reference to contractile muscle volume g

. Hogrel trophy candidate protein DUX4 Freitas; S. Harper facioscapulohumeral muscular dystrophy facilitates development of

owler; N. Pyne; N. Saad; M. Alkharsan; A. Rashnonejad; G. Chermahini; Guckes; K. McLaughlin; L. Rodino-Klapac; S. Harper X4 toxicity in facioscapulohumeral muscular dystrophy . Pyne; S. Harper aluate ACE-083, a local muscle therapeutic, in patients with

Johnson; N. Joyce; J. Kissel; P. Shieh; L. Korngut; C. Weihl; R. Tawil; A. A. Leneus; B. Miller; M. Sherman; C. Glasser; K. Attie ed vector for the treatment of oculopharyngeal muscular dystrophy Roth; O. Cappellari; N. Nguyen; S. Kao; K. Takahashi; C. Kloth; P.

ood-onset reducing body myopathy in Japan . Miyahara; E. Takeshita; Y. Motohashi; H. Komaki; M. Sasaki; I. Nishino


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P.369 A Chinese case of the early onset recessiveL. Wang ; H. Li; C. Zhang

P.370 Diffusion tensor imaging and voxel based monset myotonic dystrophy type 1 J, Park ; S, Hwang; Y, Chang; H, Song

P.371 Do scientific publications fit with DM1 indM. De Antonio; C. Dogan; D. Hamroun; A

Next generation sequencing and experimenChairpersons: Silvère van der Maarel and C

P.372 Next generation sequencing: new phenotypR. Juntas Morales ; C. Cances; P. Cintas; D.Perrin; N. Leboucq; V. Rigau; M. Arne-Bes

P.373 The NIH-NNDCS/CMG integrated clinico-gNGS era S. Donkervoort ; A. Foley; D. Saade; S. NeuMacArthur; C. Bönnemann

P.374 Identification of gene mutations in patientsS. Luo ; M. Xue; J. Sun; K. Qiao; J. Song;

P.375 Application of next-generation sequencing Korea J. Lee ; H. Shin; S. Lee; J. Choi; S. Kim; Y

P.376 International DMD: a project devoted to dnorthern African countries R. Selvativci; C. Trabanelli; S. Neri; R. RoA. Ferlini

P.377 The latin America experience with a next gweakness T. Almeida; M. Guecaimburu Ehuletche; A.Claeys; V. Straub; N. Daba; R. Faria; A. Lo

P.378 Clinical nonsense mutations in neuromuscuE. Zapata-Aldana ; C. Campbell

P.379 Transcriptome analysis of trans-differentiatH. Gonorazky ; S. Naumenko; D. Kao; P. MDowling

P.380 The complexity of splicing pattern in humacorrelations M. Savarese ; P. Jonson; S. Huovinen; L. Pa

P.381 Muscle satellite cells and impaired late stagA. Ribeiro Junior ; R. Ishiba; S. Alcântara FSantos; E Souza; M. Vainzof

P.382 Klf5 has essential roles in myoblast differeS. Hayashi ; Y. Oishi; I. Manabe; I. Nishino

P.383 Cullin-3 is required for normal skeletal muJ. Blondelle ; K. Tallapaka; P. Shapiro; M. G

P.384 RNAseq in urine-derived stem cells identifiM. Falzarano; H. Osman; R. Rossi; R. Selv

P.385 Physician-Level muscle disease classifier forY. Kabeya ; Y. Takeuchi; H. Nakano; M. OkNishino

P.386 A versatile, modular digital script for autoepifluorescent paradigms M. Ellis; V. Sardone; S. Torelli; S. Saeed; AMuntoni; R. Phadke

P.387 Nonsense mutation induced exon skipping M. Okubo ; S. Noguchi; S. Hayashi; M. Ma

20:00-00:00 Networking dinner

ry-Dreifuss-like phenotype without cardiomyopathy

ometry correlates with the CTG repeats and motor function in adult

ls expectations? - A systematic review and comparative study le; B. Eymard; Study Group; G. Bassez

yology (P.372-387) d Weihl

otype correlations rd; G. Sole; C. Espil; F. Rivier; U. Walther Louvier; E. Uro-Coste; A. uval; B. Acket; D. Peyroulan; C. Theze; H. Pegeot; M. Cossee ic approach to undiagnosed pediatric neuromuscular patients in the

; P. Mohassel; D. Bharucha-Goebel; K. Chao; B. Cummings; M. Lek; D.

primary periodic paralysis using targeted next-generation sequencing i; W. Zhu; L. Zhou; J. Xi; J. Lu; X. Ni; T. Dou; C. Zhao customized targeted gene panel for neuromuscular disorders in South

i phin mutation identification by NGS technology in eastern Europe and

. Fini; P. Rimessi; A. Venturoli; M. Neri; F. Gualandi;

ation sequencing genetic panel for recessive limb-girdle muscular

a; J. Bevilacqua; A. Dubrovsky; M. Franca; S. Vargas; M. Hegde; K. V. Luccerini; M. Periquet; S. Sparks; N. Thibault; R. Araujo isorders

yotubes for the diagnosis of neuromuscular disorders ri; A. Ramani; K. Mathews; M. Tarnopolsky; S. Moore; M. Brudno; J.

ult skeletal muscles: a key to understanding genotype-phenotype

P. Auvinen; B. Udd; P. Hackman eneration in different murine models of muscular dystrophies des; C. Freitas Almeida; D. Ayub Gerrieri; A. Fernandes dos Santos; I.

on and survival during fetal muscle development

development emian; J. Singer; S. Lange e expression of 308 neuromuscular gene transcripts M. Neri; F. Gualandi; M. Fang; l. Zhiyuan; A. Grilli; S. Bicciato; A. Ferliniputer-aided diagnostics with neural networks M. Inoue; R. Tokumasu; I. Ozawa; A. Takano; T. Iwamori; S. Yonezawa; I.

high-throughput multiparametric myofibre analysis in brightfield and

urta; N. Hill; D. Scaglioni; L. Feng; C. Sewry; M. Singer; F.

cker muscular dystrophy I. Nishino


S

Stenzel

rs

önnemann

Congress gress – Auditorium

aturday 6 October 2018

08:00- Conference desk opens

08:30-10:30 Poster Highlights – Auditorium

Chairpersons: Kathryn Swoboda and Werner


10:30-11:30 WMS General Assembly - Auditorium

11:30-13:00 Late breaking session - Auditorium

Chairpersons: Valeria Ricotti and Carsten B

13:00-13:30 Prize giving and welcome to the 24 th WMSHandover of the WMS flag and close of con

13:30-14:30 Lunch and end of congress

23rd wms congress – 2018 · s8 program / neuromuscular disorders 28 (2018) s7–s27 13:15-14:30...

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