Neuromuscular disorders: Gene location

Neuromnsc. Disord., Vol. 2, No. 5/6, pp. 431-434. 1992 Printed in Great Britain

0960-8966/92 $5.00 + 0.00 Pergamon Pn:ss Ltd

N E U R O M U S C U L A R DISORDERS: GENE LOCATION* Disease

Mode of Gene inheritancet location:[:

Symbol§ (gene product)

MIMll

Key references¶

DYS

310200

Monaco et al. (1986) Burghes et al. (1987) Koenig et al. 0987, 1988) Hodgson et al. (1986) Romeo et al. (1988) Wijmenga et ai. (1990) Upadhyaya et aL (1990) Wijmenga et al. (1991, 1992) Beckmann et al. (1991) Speer et al. (1991) Ben Othmane et al. (1992) Matsumura et al. (1992)

Muscular dystrophies

Duchenne/Becker

XR

Xp21.2

(dystrophin)

Emery-Dreifuss

XR

Xq28

EMD

310300

Facio-scapulo-humeral

AD

4q35

FSHD

158900

Limb-girdle, recessive Limb-girdle, dominant Severe childhood autosomal recessive muscular dystrophy (Duchenne-like)

AR AD AR

15q 5q22-q34 13q12

LGMD2 LGMDI SCARMD (50 kDaDAG)**

253600 159000 253700

Myotubular myopathy

XR

Xq28

310400

Thomas et al. (1967)

Central core disease Nemaline myopathy

AD AD

19ql3.1 lq21-q23

MTMl or MTMX CCD NEMI

ll7000 161800

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

Myotonic dystrophy (Steinert)

AD

19q13

DM

160900

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)

Myotonia congenita, dominant (Thomsen's disease)

AD

see under Ion channel muscle diseases

Generalized myotonia, recessive (Becker's disease)

AR

see under Ion channel muscle diseases

Myotonia congenita, dominant (Thomsen's disease)

AD

7q35

160800

Koch et al. (1992b)

Generalized myotonia, recessive (Becker's disease) Hyperkalaemic periodic paralysis

AR

255700

Koch et al. (1992b)

170500

Paramyotonia congenita

AD

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)

Congenital myopathies

Myotonic syndromes

Ion channel muscle disease

ADMC CLC-I (muscle chloride channel)

7q35

CLC-i (muscle chloride channel)

AD

17q 13.113.3 17q 13.113.3

SCN4A (sodium channel ~t-subunit gene)

SCN4A (sodium channel cx-subunit gene)

168300

**Primary defect to be confirmed. Continued

431

432

Neuromuscular Disorders: Gene Location

Disease

Mode of inheritancet

Gene location~

Malignant hyperthermia

AD

19q 13.1

Symbol§ (gene product)

MIMII

Key references¶

MH

145600

MacLennan et aL (1990) McCarthy et al. (1990) Fujii et al. (1991) Gillard et al. (1992)

232300 232600

Hers (1963) Mommaerts et al. (1959)

232800

Taruk et al. (1965)

Gilliam et aL (1990) Melki et al. (1990a) Brzustowicz et al. (1990) Melki et al. (1990b) Fishbeck et al. (1986) La Spada et al. (1991)

(ryanodine receptor)

Metabolic myopathies

Glycogenoses Type II Pompe Type V McArdle

AR AR

17q23 l I q 13

GAA (acid maltase) PYGM (muscle- type phosphorylase)

Type VII Tarui

AR

lcenq32

PFKM (muscle-type phosphofructokinase)

Neurogenic syndromes

Spinal muscular atrophy SMA: Werdnig-Hoffmann

AR

5qll-ql3

SMA

253300

Kugelberg-Welander

AR

5qll-ql3

SMA

253400

Kennedy disease

XR

Xqll-12

SBMA

313200

(androgen receptor)

Charcot-Marie-Tooth neuropathy: Type 1 (1 a)

AD

17p11.2

CMTIA

118220

lq21-23

CMT1B

Xq 13 18ql 1.2ql2.1 9cen-q2L 21 q22

CMTX PALB (transthyretin) FA ALS

Vance et al. (1989) Matsunami et al. (1992) Patel et al. (1992) Timmerman et al. (1992) Valentijn et al. (1992) 118200 Bird et al. (1982) Guiloffet aL (1982) 302800 Gal et aL (1985) 176300 Costa et al. (1978) 229300 Chamberlain et aL (1988) 105400 Siddique et aL (1991)

Xq27-q28

SPGI

312900

Kenwrick et al. (1986)

(peripheral myelin protein P M P - 2 2 )

(lb)

AD

HMSN X-linked XD Familial amyloid neuropathyAD Friedreich's ataxia AR Familial amyotrophic AD lateral sclerosis Spastic paraplegia, XR X-linked, complicated Spastic paraplegia, XR X-linked, uncomplicated Adrenoleukodystrophy XL Amyloidosis type IV Iowa AD

Xq21-q22

SPG2

312920

Keppen et al. (1987)

Xq28 I lq23-qter

300100 107680

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

Amyloidosis type V Finnish AD

9q33

ALD APOAI (Apolipoprot A l) GSN (gelsoline)

105120

Maury et aL (1990)

Disease

Genetic defect

Mode of inheritance

Mitochondrial myopathies

KSS MELAS MERRF MM PEO

References see key references Zeviani and DiDonato (1991) Wallace et al. (1991) Wallace (1992)

single large deletions point mutations in tRNA (leu, i/e) point mutation in tRNA (lys) deletions deletions

sporadic maternal maternal maternal sporadic

Neuromuscular Disorders: Gene Location

433

Note to Gene Location Table

KSS = Kearn-Sayres Syndrome (MIM 165100); MELAS = Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like (MIM 251910); MERRF = Myoclonus Epilepsy with Ragged Red Fibers (MIM 254775); MM = Mitochondrial Myopathy (MIM 251900); PEO = Progressive External Ophthalmoplegia (MIM 165130). *This table has been prepared by Jean-Claude Kaplan and Bertrand Fontaine. 5" 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 ofthe locus approved by the Nomenclature Committee ofthe 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 Dominant, Autosomal Recessive, and X-linked Phenotvpes, 10th Edn. Baltimore: Johns Hopkins University Press, 1992.090 ¶ Key references: see list below.

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