Neuromusc. Disord., Vol. 2, No. 4, pp. 289--292, 1992 0960-8966/92 S5.00 + 0.00 Printed in Great Britain Pergamon Press Ltd

NEUROMUSCULAR DISORDERS: GENE LOCATION*

Disease Mode of Gene Symbol§ MIMII Key inheritancei" iocation:~ (gene product) references¶

Muscular dystrophies Duchenne/Becker XR Xp21.2

Emery-Dreifuss XR Xq28

Facio-scapulo-humeral AD Limb-girdle, recessive AR Limb-girdle, dominant AD

Myotonic syndromes Myotonic dystrophy AD

Myotonia congenita dominant (Thomsen's disease)

Generalized rnyotonia, recessive (Becker's disease)

Congenital myopathies Myotubular myopathy

Central core disease Nemaline myopathy

Metabolic myopathies Glycogenoses

Type II Pompe

Type V McArdle

AD

AR

4q35-qtr 15q 5q22-q34

19q13

DYS 310200 (dystrophm)

EMD 310300

FSHD 158900 253600

LGMD1 159000

DM

7q35 CLC-1 (muscle chloride channe~

7q35 CLC-I (muscle chloride channeO

160900

160800

255700

XR Xq28 MTM 1 310400 or MTMX

AD 19q 13.1 CCD 117000 AD lq21-q23 NEMI 161800

AR

AR

Type VII Tarui AR

17q23 GAA 232300 (acid maltase)

llq13 PYGM 232600 (muscle type- phosphorylase)

I cenq32 PFKM 232800 (muscle-type phosphofructokinase)

17q 13. !- 13.3 SCN4A 170500 (sodium channel subunit gene)

17q13.1-13.3 SCN4A (sodium channel subunit gene)

Hyperkalaemic periodic AD paralysis

Paramyotonia congenita AD

Monaco et al. (1986) Burghes et al. (1987) Koenig et al. (1987, 1988) Hodgson et al. (1986) Romeo et al. (1988) Wijmenga et al. (1990) Beckmann et al. (1991) Speer et al. (1991)

Renwick et al. (1971) Friedrich et al. (1987) Harley et al. (1992) Buxton et al. (1992) Aslanidis et al. (1992) Mahadevan et al. (1992) Fu et al. (1992) Brook et al. (1992) Koch et al. (1992b)

Koch et al. (1992b)

Thomas et al. (1967)

Kausch et aL (1991) Laing et al. (1991)

Hers (1963)

Mommaerts et al. (1959)

Taruk et al. (1965)

Fontaine et al. (1990) Ptacek et aL (1991a) Rojas et al. (1991)

Ebers et al. (1991) Koch et al. (1992a) McClatchey et al. (1992) Ptacek et aL (1991b)

Continued

289

290 Neuromuscular Disorders: Gene Location

Disease Mode of Gene Symbol§ MIMiJ Key inheritance~- Iocation:~ (gene product) referencesC

Miscellaneous Malignant hyperthermia AD 19ql3.1 MH 145600

(ryanodine receptor)

Neurogenic syndromes Spinal muscular

atrophy SMA: Werdnig-Hoffmann A R 5q 11-q 13

Kugelberg-Welander AR 5q I 1 -q 13

Kennedy disease XR Xq11-12

Charcot-Marie-Tooth neuropathy:

Type 1 (la) AD 17pl 1.2

SMA 253300

SMA 253400

SBMA 313200 (androgen receptor)

CMTIA (peripheral myelin protein PMP-22)

118220

(lb) AD 1q21-23 CMTIB 118200

HMSN X-linked XD Xq 13 CMTX 302800 Familial amyloid AD 18ql 1.2q12.1 PALB 176300

neuropathy (transthyretin) Friedreich's ataxia AR 9cen-q21 FA 229300 Familial amyotrophic AD 21 q22 ALS 105400

lateral sclerosis Spastic paraplegia, XR Xq27-q28 SPG I 312900

X-linked, complicated Adrenoleukodystrophy XL Xq28 ALD 300100 Amyloidosis type IV Iowa AD 1 lq23-qter APOAI 107680

(Apolipoprot AI ) Amyloidosis type V Finnish AD 9q33 GSN 105120

(gelsoline)

MacLennan et al. (1990) McCarthy et al. (1990) Fujil et al. (1991) Gillard et al. (1992)

Gilliam et al. (1990) Melki et al. (1990) Brzustowicz et al. (1990) Melki et al. (1990) Fishbeck et al. (1986) La Spada et al. ( 199 ! )

Vance et al. (1989) Matusanami et al. (1992) Patel et al. (1992) Timmerman et al. (1992) Valentijn et al. (1992) Bird et al. (1982) Guiloffet al. (1982) Gal et al. (1985) Costa et al. (1978)

Chamberlain et al. (1988) Siddique et al. ( 1991 )

Kenwrick et al. (1986)

Aubourg et al. (1987) Nichols et al. (1989)

Maury et al. (1990)

Disease Genetic defect Gene product Key references"

Mitochondrial myopathies Kearns-Sayre syndrome (KSS)/

Progressive external ophthalmoplegia (PEO) Myocionic epilepsy with ragged

red fibres (MERRF) Mitochondrial encephalomyopathy

with lactic acidosis and strokes (MELAS)

Myopathy/cardiomyopathy Neurogenic weakness, ataxia and

retinitis pigmentosa Dominantly inherited PEO

Single large deletions/ dupications

Point mutation 8344

Point mutation 3243 Point mutation 4317

Point mutation 3260 Point mutation 8993

Multiple deletions

Variable

tRNA (lycine)

tRNA leucinc tRNA isoleucine)

tRNA leucine) ATPase 8

Variable

Harding (1991)

*This table has been prepared by Jean-Claude Kaplan and Bertrand Fontaine. t Inheritance: XR: sex-linked recessive: AD: autosomal dominant; AR: autosomal recessive.

Location: chromosomal assignment of the morbid locus, or of the gene when known. § Symbol: abbreviation of the locus approved by the Nomenclature Committee of the Human Gene Mapping

International Workshops. Gene: when known the full name of the gene product is given. II MIM: reference number in McKusick V A. Mendelian Inheritance in Man. Catalogs o f Autosomal Domin-

ant, A utosomal Recessive, and X-linked Phenotypes, 9th Edn. Baltimore: Johns Hopkins University Press. 1990. ~r Key references: see list below.

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