Neuromusc. Disord.. Vol. 4, No. 3, pp. 277-283, 1994 Elsevier Science Ltd

rergamon Printed in Great Britain 0960-8966/94 $7.00 + .00

NEUROMUSCULAR DISORDERS: GENE LOCATION

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

Muscular dystrophies

Duchenne/Becker XR Xp21.2 DYS 310200 (dystrophin)

Emery-Dreifuss X R Xq28 EM D 310300

Facio-scapulo-humeral AD 4q35 FSHD 158900

AD ? FSHD2 Limb-girdle, recessive AR 15q LGMD2

Limb-girdle, dominant AD 5q LGM D 1

Severe childhood AR 13q 12 SCARMDI autosomal recessive muscular dystrophy (Duchenne-like) AR ? SCARMD2

Congenital myopathies

Myotubular myopathy XR

Central core disease AD

Nemaline myopathy AD Fukuyama congenital muscular AR dystrophy

Myotonie syndromes Myotonic dystrophy AD (Steinert)

Myotonia congenita, AI) dominant (Thomsen's disease)

Generalized myotonia, AR recessive (Becker's disease)

Ion ehanad muscle diseases Myotonia congenita, AD dominant (Thomsen's disease) Generalized myotonia, A R recessive (Becker's disease) Hyperkalaemic AD periodic paralysis

Hypokalaemic AD periodic paralysis Paramyotonia AD congenita

Malignant AD hyperthermia

Xq28 MTMI (or MTMX)

19ql3.1 CCD = MH (ryanodine receptor)

lq21 -q23 NEM I 9q31-33 FCMD

19ql3 DM (myotonin-protein k inase )

see under Ion channel muscle diseases

s e c u n d e r l o n channel musc&diseases

7q35 CLC-I (muscle chloride channel)

7q35 CLC-I (muscle chloride channel)

17q 13.1 SCN4A 13.3 (sodium channel

a-subunit gene) I q3 I -q32 HypoPP

17q 13.1 SCN4A 13.3 (sodium channel

a-subunit gene)

19q 13. I MHSI (rvanodine receptor)

17q 11.2-q24 MHS2 ? MHS3

158900 253600

159000

253700

310400

117000

161800 253800

160900

160800

255700

170500

170400

168300

145600

145600 145600

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

1992, 1993) Upadhyaya el al. (1990, 1992) Wright et a-l. (1993) Gilbert el al. (1993) Beckmann et al. (1991) Young el aL (1992) Speer el al. (1992)

Ben Othmane et aL (1992) Matsumura el al. (1992) Azibi el al. (1993) Passos-Bueno et al. (1993) Romero et al. (1994)

Thomas et al. (1987)

Kausch el al. ( 1991 ) Zhang et al. (1993) Quane el al. (1993) Laing el al. (1992) Toda el aL (1993)

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

Koch et al. (1992b) George Jr et al. (1993)

Koch et al. (1992b)

Fontaine et aL (I 990) Ptacek et al. (1991a) Rojas el al. (1991) Fontaine et al. (1994)

Ebers et al. (1991) Koch et al. (1992a) McClatchey et al. (1992) Ptacek et aL (1991b) MacLennan et aL (1990) McCarthy et al. (1990) Fujii et al. (1991) Gillard et aL (1991, 1992) Quane et aL (1993) Levitt et aL (1993) Sudbrak et aL (1993)

277

Continued

278 Neuromuscu la r Disorders: Gene Locat ion

Disease Mode of Gene Symbol§ MIM!i Key inher i tance t location:~ (gene product ) references ~r

Metabolic myopathies

Glycogenoses Type I 1 (Pompe) AR 17q23 GAA (acid mahase) 232300 Type V (McArdle) AR I lq13 PYGM 232600

(muscle-type phosphoryhtse)

Type VII (Tarui)

Type IX

Type X

AR Icenq32 PFKM 232800 ( muscle-o'pe phospholmctokinase)

XR Xql3 PGKI 311800 (phosphog(vcerate k inase )

A R 7p 12-p 13 PGAM M 261670 (museh" phosphog(vt erate mutase )

AR I I p 15.4 LDHA 150000 (lactate dehydrogenase )

Type Xl

Disorders of lipid metabolism Carnitine palmitoyl- transferase deficiency

AR Ipl I-p13 CPT2 255110 (carnitine palmitovl- /rans/erase )

Hereditary cardiomyopathies

Familial hypertrophic cardiomyopathy

A D 14q I 1.2 FHC I 192600 = MYH6, MYH7

( t 'ardiac m I'osin hea ry-chain ~t or [3)

Familial hypertrophic AD cardiomyopathy Familial hypertrophic AD cardiomyopathy

Neurogenie syndromes

Spinal muscular atrophy (SMA) W'erdnig-Hoffman AR

K ugelberg- A R Welander

Familial amyotrophic AD lateral sclerosis

Iq3 FHC2

Ilp13-q13 FHC3

5qll-q13 SMA

5qll-q13 SMA

21q22

Kennedy disease XR Xq21-22

Hereditary ataxias Friedreich ataxia A R 9cen-q 2 I Friedreich ataxia with A R 8q selective vitamin E deficiency Spinal cerebellar AD 6p23 atrophy

Spinal cerebellar AD 12q23-24. I atrophy (Cuban) Spinal cerebellar atrophy AD 14q24.3-qter Spinal cerebellar atrophy AD ? Machado-Joseph AD t4q24.3-q32 disease

Hereditary motor sensory neuropathies (HMSN) Hereditary AD 17pl 1.2 neuropathy with liability to pressure palsies Charcot-Marie-Tooth neuropathy Type 1 (la) AD 17p11.2

ALS = SODI ( C u / Z n superoxide dismutase ) SBMA (androgen receptor )

FA VED

SCA I

SCA2

SCA3 SCA4 MJD

PMP-22 (peripheral m.velin protein P22)

PMP-22 (peripheral myelin protein P22 )

192600

192600

253300

253400

105400

313200

229300 277460

164400

164400

164400 164400 109150

162500

118220

Hers (1963) Mommaerts et al. (1959) Schmidt et al. (1959) Lebo et aL (1984) Tsujino et al. (1993a) Tarui et al. (1965) Vora et al. (1982) Nakajima e t al. (1991) DiMauro et al. (198 la, 1983) Rosa et al. (1982)

DiMauro et al. (1981b) Edwards et aL (1989) Castella-Escola et al. (1990) Tsujino et aL (1993b) Boone et al. (1972) Kanno et al. (1980) Scrable et al. (1990)

DiMauro and Melis- DiMauro (1973) Finocchiaro el al. ( 1991 ) Minoletli et al. (1992) Taroni et al. (1993)

Jarcho eta/. (1989) Solomon et al. (1990) Tanigawu et al. (1990) Geisterfer-Lowrance et al. (1990) Watkins et aL (1993)

Carrier et a/. (1993)

Gilliam et a/. (1990) Melki et al. (1990b) Brzustowicz et al. (t990) Melki et al. (1990a) Siddique el a/. ( 1991 ) Rosen et al. (1993)

Fischbeck et al. (1986) La Spada et al. ( 1991 )

Chamberlain et al. (1988) Ben Hamida et al. (1993)

Jackson el al. (1977) Zoghbi et al. ( 1991 ) Orr et al. (1993) Khati et al. (1993) Auburger et al. (1990) Gispert et al. (1993) Stevanin et al. (1994) Stevanin et al. (1994) Takiyama et al. (1993)

Chance et al. (1993)

Vance et al. (1989) Matsunami et al. (1992) Patel et al. (1992) Timmerman el aL ( 1990, 1992) Valentijn et al. (1992) Roa et aL (1993a)

Continued

N e u r o m u s c u l a r Disorders: Gene Loca t ion 279

Disease M o d e of Gene Symbol§ MIMIq Key inher i tance ' t location:[: (gene product ) referencesf

Type I (I b) AD Iq21-23 CMTIB 118200 Bird et al. (1982) PMP0 Guiloffet al. (1982) (peripheral Hayasaka et aL (1993a) myelin protein Po) Kulkens el al. (1993)

Type I1 (axonal) AD I p35-p36 CMT2A 118210 Hentati et aL (1992) Ben Othmane et al, (1993a)

Type I11 see Dejerine-Sottas Type IV AR 8q CMT4A 214400 Ben Othmane et al. (1993b) X-linked XD Xql3 CMTX 302800 Gal et al. (1985)

(connexin) Bergoffen et al. (1993) D6jerine-Sottas AD 17pl 1.2 PMP-22 145900 Roa et al. (1993b) Hypertrophic neuropathy AD Iq21-q23 PMPO 145900 Hayasaka el al. (1993b)

Hereditary paraplegias Spastic paraplegia AD 14q FSP 182600 Hazan et al. (1993) (Strumpell disease) Spastic paraplegia XR Xq27-q28 SPGI 312900 Kenwrick el al. (1986) X-linked, complicated Spastic paraplegia XR Xq2 I-q22 SPG2 312920 Keppen el al. (1987) X-linked, uncomplicated

Other neuromuscular disorders

Familial dysautonomia AR 9q31-q33 HSAN3 223900 Blumenfeld et al. (1993) (Riley-Day syndrome) Familial amyloid AD 18ql 1.2- PALB 176300 Costa el al. (1978) neuropathy q 12. I (prealhumin

transthyretin ) Amyloidosis AD I Iq23-qter APOA! 107680 Nichols el al. (1989) type IV Iowa (apolipoprotein A I) Amyloidosis type V AD 9q33 GSN 105120 Maury el al. (1990) Finnish (gelsoline) Adrenoleukodystrophy XL Xq28 ALD 300100 Aubourg el al. (1987)

Mosser el al. (1993)

Note to Gene Location Table KSS = Kearns-Sayres Syndrome (MIM 165100); MELAS = Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like episodes

(M1M 251910): MERRF = Myoclonus Epilepsy with Ragged Red Fibers (M1M 254775); MM = Mitochondrial Myopathy (M1M 251900); PEO = Progressive External Ophthalmoplegia (MtM 165130).

";" 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: acronym of the locus or of the gene approved by the Nomenclature Committee of the Human Gene Mapping International Workshops. Gene: when known the full name of the gene product is given in parentheses; for cloned genes the symbol is printed in bold.

I MIM: reference number in McKusick V A. Mendelian Inheritance in Man. Catalogs o]'Autosomal Dominant, Autosomal Recessive, and X- linked Phenotypes, 10th Edn. Baltimore: Johns Hopkins University Press, 1992.

Key references: see list below.

This table has been prepared by Jean-Claude Kaplan and Bertrand Fontaine.

A separate fully updated gene table for the mitochondrial genome will appear in a forthcoming issue.

280 Neuromuscular Disorders: Gene Location

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