Neuromuscular disorders: gene location

Neuromuscular Disorders 11 (2001) 680±689 www.elsevier.com/locate/nmd

Neuromuscular disorders: gene location Vol. 11 Nos. 6±7, September 2001 Mode of inheritance a

Gene location b

Symbol c (gene product)

MIM d

Key references e

Duchenne/Becker

XR

Xp21.2

DMD (ˆDYS) (dystrophin)

310200

Emery-Dreifuss, X-linked

XR

Xq28

EMD (emerin)

310300

Emery-Dreifuss autosomal dominant Facio-scapulo-humeral

AD

1q11±q23

181350

AD

4q35

EDMD-AD ˆ LMNA (lamin A/C) FSHD

Monaco et al. (1986) Burghes et al. (1987) Koenig et al. (1987, 1988) Hoffman et al. (1987, 1988) Hodgson et al. (1986) Romeo et al. (1988) Bione et al. (1994, 1995) Klauck et al. (1995) Nigro et al. (1995) Bonne et al. (1999)

Limb-girdle MD, dominant

AD

5q31

Autosomal dominant limb-girdle MD with cardiac involvement Limb-girdle MD, dominant

AD

1q11±21

AD

3p25

Familial dilated cardiomyopathy with conduction defect and adult-onset limb-girdle MD Limb-girdle MD, dominant Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy Limb-girdle, recessive

AD

6q23

AD AD

7q 5q31

AR

15q15.1±q21.1

AR

2p13

AR

13q12

AR

Disease Muscular dystrophies

PII: S09 60-8966(00)0026 6-8

LGMD1A (myotilin) LGMD1B ˆLMNA (lamin A/C) LGMD1C (ˆCAV3) (caveolin-3) LGMD1D (FDC-CDM)

158900

159000 159001 601253

Wijmenga et al. (1990, 1991, 1992, 1993) Upadhyaya et al. (1990, 1992) Wright et al. (1993) Van Deutekom et al. (1993) Speer et al. (1992) Hauser et al. (2000) Muchir et al. (2000)

602087

Minetti et al. (1998) McNally et al. (1998) Messina et al. (1997)

LGMD1E VPDMD (possibly allelic to LGMD1A) LGMD2A (ˆCAPN3) (calpain 3)

603511 158580

Speer et al. (1999) Feit et al. (1998)

253600

LGMD2B (dysferlin) see also Miyoshi myopathy LGMD2C (ˆSGCG) (g -sarcoglycan)

603009

Beckmann et al. (1991) Young et al. (1992) Richard et al. (1995, 1997) Bashir et al. (1994, 1998) Liu et al. (1998)

17q12±q21.33

LGMD2D (ˆSGCA) (adhalin ˆ a -sarcoglycan)

600119

AR

4q12

253700

AR

5q33±q34

LGMD2E (ˆSGCB) (b -sarcoglycan) LGMD2F (ˆSGCD) (d -sarcoglycan)

253700

253700

Ben Othmane et al. (1992) Azibi et al. (1993) Noguchi et al. (1995) McNally et al. (1996) Piccolo et al. (1996) Roberds et al. (1994) Piccolo et al. (1995) Passos-Bueno et al. (1995) Ljunggren et al. (1995) Carrie et al. (1997) Lim et al. (1995) BoÈnnemann et al. (1995, 1996) Passos-Bueno et al. (1996) Nigro et al. (1996) Continued

Neuromuscular disorders: gene location

681

Mode of inheritance a

Gene location b

Symbol c (gene product)

MIM d

Key references e

AR

17q11±q12

253700

AR

9q31±q34.1

LGMD2G (telethonin) LGMD2H

Moreira et al. (1997) Moreira et al. (2000) Weiler et al. (1998)

AR

19q13.3

LGMD2I

Distal recessive myopathy (Miyoshi myopathy)

AR

2p12±14

Distal myopathy with rimmed vacuoles Hereditary inclusion body myopathy, recessive Autosomal dominant distal myopathy Tibial muscular dystrophy (Udd)

AR

9p1±q1

MM (dysferlin) see also LGMD2B DMRV (IBM2)

600737

AR

9p1±q1

HIBM (IBM2)

601073

AD

14

MPD1

160500

Mitrani-Rosenbaum et al. (1996) Argov et al. (1997) Laing et al. (1995a)

AD

2q31

TMD

600334

Haravuori et al. (1998)

AD

2q24±31

MPRM1

603689

Nicolao et al. (1999)

AD

2q21

MPRM2

603689

Xiang et al. (1999)

AD

21q22.3

158810

JoÈbsis et al. (1996)

AD

2q37

158810

Speer et al. (1996) Bertini et al. (1998) Pan et al. (1998)

Oculopharyngeal muscular dystrophy

AD

14q11.2±q13

164300

Brais et al. (1995, 1998)

Epidermolysis bullosa simplex associated with late-onset muscular dystrophy

AR

8q24-qter

COL6A1-COL6A2 (collagen type VI subunit a 1 or a 2) COL6A3 (collagen type VI subunit a 3) OPMD (ˆPABP2) (poly(A) binding protein 2) MD-EBS (plectin)

226670

Gache et al. (1996) Smith et al. (1996) Wuyts et al. (1996)

Desmin-related myopathy

AD

11q22

123590

Vicart et al. (1998)

AD AR XR

2q35

601419

Goldfarb et al. (1998) Munoz-Marmol (1998) Saviranta et al. (1988)

Myotubular myopathy

XR

Xq28

Central core

AD

19q13.1

Nemaline myopathy

AD

1q21±q23

Disease

Limb-girdle muscular dystrophy, Hutterite type Limb-girdle recessive

254110

Driss et al. (2000)

Distal myopathies 254130

Bejaoui et al. (1995) Bashir et al. (1998) Liu et al. (1998) Ikeuchi et al. (1997)

Other myopathies Autosomal dominant myopathy with proximal muscle weakness and early respiratory muscle involvement (EdstroÈm) Autosomal dominant myopathy with proximal muscle weakness and early respiratory muscle involvement Bethlem myopathy

Myopathy with excessive autophagy

Xq28

DRM (ˆCRYAB) (a B-crystallin) DES (desmin) MEAX

310440

Congenital myopathies MTMX (myotubularin) CCD (ˆRYR1) (skeletal muscle ryanodine receptor) NEM1 (ˆTPM3) (a tropomyosin)

310400 117000 161800

Thomas et al. (1987) Laporte et al. (1996, 1997) Kausch et al. (1991) Zhang et al. (1993) Quane et al. (1993) Laing et al. (1992, 1995b)

Continued

682 Disease

Neuromuscular disorders: gene location Mode of inheritance a

Gene location b

Symbol c (gene product)

MIM d

Key references e

AR

2q21.2±q22

256030

AD AR

1q42.1

NEM2 (nebulin) ACTA1 (actin alpha, skeletal muscle) ACTA1 (actin alpha, skeletal muscle) FCMD (fukutin) LAMA2 (laminin alpha2 chain of merosin)

Wallgren-Pettersson et al. (1995) Pelin et al. (1999) Nowak et al. (1999)

Congenital myopathy with excess of thin myo®laments Fukuyama congenital muscular dystrophy Congenital muscular dystrophy with merosin de®ciency

1q42.1

101800 256030

Nowak et al. (1999)

AR

9q31±q33

AR

6q2

AR

1q42

CMD1B

AR

12q13

ITGA7 (integrin a 7)

600536

Hayashi et al. (1998)

AR

1p35±36

RSMD-1

602771

Moghadaszadeh et al. (1998)

Myotonic, dystrophy (Steinert)

AD

19q13

DM (myotonin-protein kinase)

160900

Myotonic dystrophy type 2 Myotonia, dominant (Thomsen) Myotonia, recessive (Becker) Rippling muscle disease Schwartz-Jampel syndrome Brody disease

AD AD AR AD AR AR

3q DM2 See under Ion channel muscle diseases See under Ion channel muscle diseases 1q41 RMD 1p34±p36.1 SJS (perlecan) 16p12 SERCA1 (sarcoplasmic reticulum Ca 21 ATPase)

602608

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) Ranum et al. (1998)

255800 108730

Stephan et al. (1994) Nicole et al. (1995) Odermatt et al. (1996)

AD

7q35

160800

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

Myotonia, recessive (Becker) 2. Sodium channel Hyperkalaemic periodic paralysis

AR

7q35

CLC-1 (muscle chloride channel) CLC-1 (muscle chloride channel)

255700

Koch et al. (1992b)

AD

17q23

170500

Hypokalaemic periodic paralysis, type I

AD

17q23

170500

Fontaine et al. (1990) Ptacek et al. (1991a) Rojas et al. (1991) Bulman et al. (1999)

Hypokalaemic periodic paralysis, type II

compleÂter

compleÂter

170500

Jurkat-Rott et al. (2000)

Periodic paralysis, potassium sensitive cardiodysrhytmic (Andersen's syndrome)

AD

17q23

SCN4A (sodium channel a -subunit) SCN4A (sodium channel a -subunit) SCN4A (voltage sensor sodium channel) KCJN2 (=Kir2.1) (inward rectifying potassium channel)

170390

Plaster et al. (2001)

Congenital muscular dystrophy with secondary merosin de®ciency Congenital muscle dystrophy with integrin de®ciency Congenital muscle dystrophy with rigid spine

253800 156225

Toda et al. (1993) Kobayashi et al. (1998) Tome et al. (1994) Hillaire et al. (1994) Helbling Leclerc et al. (1995) Allamand et al. (1997) Brockington et al. (2000)

Myotonic syndromes

Ion channel muscle diseases 1. Chloride channel Myotonia, dominant (Thomsen)

Continued

Neuromuscular disorders: gene location

683

Disease

Mode of inheritance a

Gene location b

Symbol c (gene product)

MIM d

Key references e

Hypokalaemic periodic paralysis

AD

1q31-q3

170400

Abbott et al. (2001)

Paramyotonia congenita

AD

17q23

KCJN2 (=Kir2.1) (inward rectifying potassium channel) SCN4A (sodium channel a -subunit)

168300

17q23

SCN4A (sodium channel a -subunit)

168300

Ebers et al. (1991) Koch et al. (1992a) McClatchey et al. (1992) Ptacek et al. (1991b, 1993) Heine et al. (1993) Lerche et al. (1993) Ptacek et al. (1994a)

AD

3p21±p24

LQT3 (ˆSCN5A) (cardiac sodium channel a -subunit)

600163

Wang et al. (1995)

AD

1q31±q32

170400

AD

19p

CACNL1A3 (calcium channel ˆ dihydropyridine receptor) APCA

Fontaine et al. (1994) Ptacek et al. (1994b) Jurkat-Rott et al. (1994) Elbaz et al. (1995) von Brederlow et al. (1995) Vahedi et al. (1995)

Potassium-aggravated myotonia Long QT syndrome (Romano-Ward syndrome) 3. Calcium channel Hypokalaemic periodic paralysis Acetazolamide responsive hereditary paroxysmal cerebellar ataxia Familial hemiplegic migraine and episodic ataxia type-2 4. Potassium channel Long QT syndrome (Romano-Ward syndrome)

108500

EA2 (ˆCACNL1A4) (calcium channel) (see also SCA6) AD

7q35±q36

Long QT syndrome (Romano-Ward syndrome)

AD

11p15.5

Long QT syndrome (Jervell and Lange-Nielsen cardioauditory syndrome) Long QT syndrome (Romano-Ward syndrome)

AR

11p15.5

AD

21q22

Long QT syndrome (Jervell and Lange-Nielsen cardioauditory syndrome) Episodic ataxia/myokymia

AR

Malignant hyperthermia

Ophoff et al. (1996) Jodice et al. (1997)

LQT2 (ˆHERG ˆ KCNH2) (potassium channel) LQT1 (ˆKCNQ1) (cardiac potassium channel) LQT1 (ˆKCNQ1) (cardiac potassium channel) LQT5 (ˆKCNE1) (potassium channel)

152427

Curran et al. (1995)

192500

Wang et al. (1996)

192500

Neyroud et al. (1997)

176261

Splawski et al. (1997)

21q22

LQT5 (ˆKCNE1) (potassium channel

176261

Schulze-Bahr et al. (1997)

AD

12p

EA1 ˆ KCNA1 (voltage gated K 1 channel)

160120

Browne et al. (1994)

AD

19q13.1

MHS1 (ˆRYR1) (ryanodine receptor)

180901

AD

17q11.2±q24

MHS2 (may be SCN4A?)

154275

AD

7q21±q22

154276

AD AD

3q13.1 1q31±q32

600467 601887

Sudbrak et al. (1995) Monnier et al. (1997)

AD

5p

MHS3 (may be CACNL2A?) MHS4 MHS5 (ˆCACNL1A3) (calcium channel ˆ dihydropyridine receptor) MHS6

MacLennan et al. (1990) McCarthy et al. (1990) Fujii et al. (1991) Gillard et al. (1991, 1992) Quane et al. (1993, 1994) Keating et al. (1994) Levitt et al. (1992) Moslehi et al. (1998) Iles et al. (1994)

Robinson et al. (1997)

Continued

684

Neuromuscular disorders: gene location Mode of inheritance a

Gene location b

Symbol c (gene product)

MIM d

Key references e

Glycogenoses X Type II (Pompe) X Type V (McArdle)

AR AR

17q23 11q13

GAA (a -glucosidase) PYGM (muscle-type phosphorylase)

232300 232600

X

Type VII (Tarui)

AR

1cenq32

PFKM (muscle-type phosphofructokinase)

232800

Hers (1963) Mommaerts et al. (1959) Schmidt and Mahler (1959) Lebo et al. (1984) Tsujino et al. (1993a) Tarui et al. (1965) Vora et al. (1982) Nakajima et al. (1991)

X

Type IX

XR

Xq13

311800

DiMauro et al. (1981a, 1983) Rosa et al. (1982)

X

Type X

AR

7p12±p13

PGK1 (phosphoglycerate kinase) PGAMM (muscle phosphoglycerate mutase)

261670

DiMauro et al. (1981b) Edwards et al. (1989) Castella-Escola et al. (1990) Tsujino et al. (1993b)

X

Type XI

AR

11p15.4

LDHA (lactate dehydrogenase)

150000

Kanno et al. (1980) Scrable et al. (1990)

AR

1p32

CPT2 (carnitine palmitoyl-transferase)

255110

AR

5q31

CDSP (ˆOCTN2) (Na 1-dependent carnitine transporter)

212140

DiMauro and Melis-DiMauro (1973) Finocchiaro et al. (1991) Taroni et al. (1993) Gerella et al. (1994) Nezu et al. (1999)

AD

14q11.2

192600

AD

1q32

AD

11p11.2

AD

15q22

AD

12q23±q24

AD

3p21

AD

19p12±q13

AD

15q14

FHC1 (MYH6, MYH7) (cardiac myosin heavy-chain a or b ) FHC2 (ˆTTNT2) (cardiac troponin T) FHC3 (ˆCMH4 ˆ MyBP-C) (cardiac myosin binding protein-C) FHC4 (ˆTPM1) (a -tropomyosin) MYL2 (regulatory myosin light chain) MYL3 (essential myosin light chain) TNNI3 (ˆTNNCI) (cardiac troponin l) ACTC (cardiac alpha actin)

AD

6q23

see LGMD1D

AD

15q14

ACTC (cardiac alpha actin)

Disease Metabolic myopathies

Disorders of lipid metabolism Carnitine palmitoyltransferase de®ciency

X

X

Primary systemic carnitine de®ciency

Hereditary cardiomyopathies Familial hypertrophic cardiomyopathy

Familial dilated cardiomyopathy with conduction defect and muscular dystrophy Idiopathic dilated cardiomyopathy

192600

Jarcho et al. (1989) Solomon et al. (1990) Tanigawa et al. (1990) Geisterfer-Lowrance et al. (1990) Watkins et al. (1993) Thierfelder et al. (1994) Carrier et al. (1993) Bonne et al. (1995) Watkins et al. (1995) Nimura et al. (1998) Thierfelder et al. (1994)

160781

Poetter et al. (1996)

160790

Poetter et al. (1996)

191044

Kimura et al. (1997)

192600

Mogensen et al. (1999)

192600 192600

Messina et al. (1997) 300257

Nishino et al. (2000)

Continued

Neuromuscular disorders: gene location

685

Disease

Mode of inheritance a

Gene location b

Symbol c (gene product)

MIM d

Key references e

Arrhythmogenic right ventricular dysplasia type

AD

14q23-q24

ARVD1

107970

Rampazzo et al. (1994)

AD

1q42-q43

600996

Tiso et al. (2001)

AD AD AD AD XR

14q12-q22 2q32.-q32.3 3p23 10p14-p12 Xq28

ARVD2 (=RYR2) (cardiac ryanodin receptor) ARVD3 ARVD4 ARVD5 ARVD6 G4.5 (taffazin)

602086 602087 604400 604401 302060

Severini et al. (1996) Rampazzo et al. (1997) Ahmad et al. (1998) Li et al. (2000) Bolhuis et al. (1991) Bione et al. (1996)

XR

Xq24

LAMP2 (lysosome associated membrane protein 2)

300257

Nishino et al. (2000)

AD

11p15.5

192500

Wang et al. (1996)

AD

7q35±36

152427

Curran et al. (1995)

AD

3p21±24

600163

Wang et al. (1995)

AD AD

4q25±27 21q22

600919 176261

Schott et al. (1995) Splawski et al. (1997)

AR

11p15.5

192500

Neyroud et al. (1997)

AR

21q22

LQT1 (ˆKCNQ1) (potassium channel) LQT2 (HERG ˆ KCNH2) (potassium channel) LQT3 ˆ SCS5A (sodium channel) LQT4 LQT5 (ˆKCNE1) (potassium channel) LQT1 (ˆKCNQ1) (potassium channel) LQT5 (ˆKCNE1) (potassium channel)

176261

Schulze-Bahr et al. (1997)

AD

2q24±q32

CHRNA (ˆAChRa subunit)

100690

AD

17p11±p12

100710

AD

17p13

CHRNB1 (ˆAChRb subunit) CHRNE (ˆAChR1 subunit) CHRNE (ˆAChR1 subunit) CHRNE (ˆAChR1 subunit) FIM COLQ (ˆCollagen Q)

100725

Sine et al. (1995) Engel et al. (1996b) Croxen et al. (1997) Engel et al. (1996b) Gomez et al. (1996) Ohno et al. (1995) Gomez et al. (1995) Engel et al. (1996b) Ohno et al. (1996)

Cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) Lysosomal glycogen storage disease (Danon disease) Long QT syndromes Romano-Ward syndrome

X

X

Jervell and Lange-Nielsen cardio-auditory syndrome

Congenital myasthenic syndromes X

Slow channel syndromes

X

Fast channel syndrome

AR

17p13

X

Acetylcholine receptor de®ciency Familial infantile myasthenia Congenital myasthenic syndrome with end-plate acetylcholin-esterase de®ciency (type 1c)

AR

17p13

AR AR

17pter 3p24.2

AR

5q11±q13

X X

100725

100725 254210 603033

Engel et al. (1996a) Ohno et al. (1997) Christodoulou et al. (1997) Donger et al. (1998) Ohno et al. (1998)

Spinal muscular atrophies X

Spinal muscular atrophy, Werdnig-Hoffmann type

SMA ˆ SMN (survival motor neuron protein)

253300

Gilliam et al. (1990) Melki et al. (1990a, 1994) Lefebvre et al. (1995) Bussaglia et al. (1995) Rodrigues et al. (1995) Continued

686 Disease

Neuromuscular disorders: gene location Mode of inheritance a

Gene location b

Symbol c (gene product)

MIM d

Key references e

X

Spinal muscular atrophy, Kugelberg-Welander type

AR

5q11±q13

SMA ˆ SMN

253400

X

Spinal muscular atrophy, distal with upper limb predominance Diaphragmatic spinal muscular atrophy with respiratory distress Familial amyotrophic lateral sclerosis

AD

7p

SMAD1 (may be allelic to CMT2D) SMARD1

600794

Roy et al. (1995) Hahnen et al. (1997) Brzustowicz et al. (1990) Melki et al. (1990b) Lefebvre et al. (1995) Christodoulou et al. (1995)

604320

Grohmann et al. (1999)

ALS1 (ˆSOD1) (Cu/Zn superoxide dismutase) ALS2 SBMA (androgen receptor)

105400

Siddique et al. (1991) Rosen et al. (1993)

205100 313200

Hentati et al. (1994a) Fischbeck et al. (1986) La Spada et al. (1991)

X

X

X

Kennedy disease

11q13±q21 AD

21q22

AR XR

2q33±q35 Xq13

Hereditary ataxias X

Friedreich ataxia

AR

9cen-q21

FA (frataxin)

229300

Chamberlain et al. (1988) Campuzano et al. (1996)

X

Friedreich ataxia with selective vitamin E de®ciency

AR

8q

277460

Ben Hamida et al. (1993) Ouahchi et al. (1995) Gotoda et al. (1995)

X

Infantile-onset spinocerebellar ataxia

AR

10q23-q24.1

AVED (ˆa TTP) (a -tocopherol transfer protein) IOSCA

271245

Nikali et al. (1995)

X

Spinocerebellar ataxia

AD

6p23

SCA1 (ataxin-1)

164400

AD

12q24.1

SCA2

183090

AD AD AD

16q24-qter 11 19p13

164400 164400 183086

AD

3p12±p21.1

SCA4 SCA5 SCA6 (ˆCACNL1A4) (calcium channel) SCA7

AD

14q24.3±q32

MJD (SCA3) (ataxin-3)

109150

AD AD AD AD

13q21 22q13 15q 5q31±q33

603680 603516 604432 604326

AD AR

19q13 13q12

SCA8 SCA10 SCA11 SCA12 (ˆPP2R2B) (protein phosphatase regulatory subunit B) SAC13 ARSACS (=SACS) (sacsin)

Jackson et al. (1977) Zoghbi et al. (1991) Orr et al. (1993) Khati et al. (1993) Ban® et al. (1994) Auburger et al. (1990) Gispert et al. (1993) Imbert et al. (1996) Pulst et al. (1996) Sanpei et al. (1996) Flanigan et al. (1996) Ranum et al. (1994) Zhuchenko et al. (1997) Jodice et al. (1997) Benomar et al. (1995) Gouw et al. (1995) David et al. (1997) Takiyama et al. (1993) Stevanin et al. (1994) Kawaguchi et al. (1994) Koob et al. (1999) Zu et al. (1999) Worth et al. (1999) Holmes et al. (1999)

X

Spinal cerebellar atrophy with pigmentary macular dystrophy Machado-Joseph

X

Spinocerebellar ataxia

X

Autosomal recessive spastic ataxia of CharlevoixSaguenay

X

164500

270660

Herman-Bert et al. (2000) Bouchard et al. (1998) Engert et al. (2000)

Continued

Neuromuscular disorders: gene location Disease

Mode of inheritance a

Gene location b

Symbol c (gene product)

687 MIM d

Key references e

162500

Chance et al. (1993) Nicholson et al. (1994)

162500

Mariman et al. (1994)

118220

601472

Vance et al. (1989) Matsunami et al. (1992) Patel et al. (1992) Timmerman et al. (1990, 1992) Valentijn et al. (1992) Roa et al. (1993a) Bird et al. (1982) Guiloff et al. (1982) Hayasaka et al. (1993a) Kulkens et al. (1993) Hentati et al. (1992) Ben Othmane et al. (1993a) Kwon et al. (1995) Ionasescu et al. (1996)

162280

Mersiyanova et al. (2000)

605589

Bouhouch et al. (1999) Leal et al. (2001) Priest et al. (1995)

Acetazolamide responsive See under Ion channel muscle diseases hereditary paroxysmal cerebellar ataxia Familial hemiplegic migraine See under Ion channel muscle diseases and episodic ataxia type-2 Hereditary motor and sensory neuropathies (HMSN) X

Hereditary neuropathy with liability to pressure palsies

X

Charcot-Marie-Tooth neuropathy Type I (demyelinating) (Ia)

(Ib)

Type II (axonal)

Axonal motor-sensory neuropathy with deafness and mental retardation Type III Type IV

X-linked X X X X

DeÂjerine-Sottas hypertrophic neuropathy DeÂjerine-Sottas neuropathy recessive Hereditary sensory neuropathy type I Hereditary motor and sensory neuropathy (proximal)

AD

17p11.2

AD

?

AD

17p11.2

AD

1q21±23

AD

1p35±p36

AD AD

3q13±q22 7p14

AD

8p21

AR AR AR

1q21 19q13 Xq24±q26

see DeÂjerine-Sottas AR 8q AR 11q22

PMP22 (peripheral myelin protein P22)

CMT1A= PMP22 (peripheral myelin protein P22)

CMT1B PMP0 (peripheral myelin protein P0) CMT2A CMT2B CMT2D (may be allelic to SMAD1) CMT2E=NFL (neuro®lament±light) CMT2C CMT2B2 CMT2X

118200

118210

CMT4A CMT4B (=MTMR2) (myotubularin-related protein-2) CMT4C CMT4E=ERG2 (early growth response 2) CMT4E=ERG2 (early growth response 2) CMTF=PRX (periaxin)

214400 601382

605260

Delague et al. (2000) Guilbot et al. (2001)

302800 145900 145900 605275

Gal et al. (1985) Bergoffen et al. (1993) Roa et al. (1993b) Hayasaka et al. (1993b) Boerkoel et al. (2001)

162400

Nicholson et al. (1996)

AR AD

5q23±33 10q21

AR

10q21

AR

19q13

XD

Xq13

AD AD AR

17p11.2 1q21±q23 19q13

AD

9q22.1±q22.3

CMTX (connexin 32) PMP22 PMP0 CMTF ˆ PRX (periaxin) HSN1

AD

3p14±q13

HMSNP

Ben Othmane et al. (1993b) Bolino et al. (1996) Bolino et al. (2000) LeGuern et al. (1996) Warner et al. (1998) Warner et al. (1998)

Takashima et al. (1997)

Continued

688

Neuromuscular disorders: gene location Mode of inheritance a

Gene location b

Symbol c (gene product)

MIM d

Key references e

AR

8q24

HMSNLˆNDRG1 (N-myc downstream regulated 1)

601455

Kalaydjieva et al. (1996) Kalaydjieva et al. (2000)

AR

15q

ACCPN

218000

Casaubon et al. (1996)

AD

12q24

HMN2

158590

Timmerman et al. (1996)

AD

2q14

DHMN-VII

158580

McEntagart et al. (2001)

AD

17q24

HNA

162100

Pelligrino et al. (1996)

AR AR

16q24.1 10q22-q23

GAN HMNSR

256850 605285

Ben Hamida et al. (1997) Rogers et al. (2000)

Spastic paraplegia (Strumpell disease)

AD AD

14q 2p

SPG3 SPG4 (spastin)

182600 182600

Spastic paraplegia, `pure' dominant

X

Spastic paraplegia, `pure' recessive Spastic paraplegia, `pure' or `complicated' recessive Spastic paraplegia, `complicated' recessive (SjoÈgren-Larsson syndrome) Spastic paraparesis Spastic paraplegia X-linked, complicated

15q 8q23±q24 12q13 19q13 2q24±q34 8q

SPG6 SPG8 SPG10 SPG12 SPG13 SPG5

182600

X

AD AD AD AD AD AR

Hazan et al. (1993) Hazan et al. (1994) Nielsen et al. (1997) Hazan et al. (1999) Fink et al. (1995) Hedera et al. (1999) Reid et al. (1999) Reid et al. (2000) Fontaine et al. (2000) Hentati et al. (1994b)

AR

16q24

602783

AR

17p11.2

AR XR

15q13±15 Xq27±q28

SPG7 (paraplegin) SLS (ˆFALDH) (fatty aldehyde dehydrogenase) SPG11 SPG1 (LICAM)

XR

Xq21±q22

SPG2 (proteolipid protein)

312920

Familial dysautonomia (Riley-Day syndrome) Familial amyloid neuropathy Amyloidosis type IV Iowa

AR

9q31±q33

HSAN3

223900

Blumenfeld et al. (1993)

AD

PALB (transthyretin) APOA1 (apolipoprotein A1)

176300

AD

18q11.2± q12.1 11q23±qter

107680

Costa et al. (1978) Tawara et al. (1983) Nichols et al. (1989)

Amyloidosis type V Finnish

AD

9q33

GSN (gelsoline)

105120

Maury et al. (1990)

Adrenoleukodystrophy

XR

Xq28

300100

Congenital ®brosis of the extraocular muscles

AD

12cen

ALD (ALD protein) CFEOM

Aubourg et al. (1987) Mosser et al. (1993) Engle et al. (1994)

Disease

X

X

X X X

X X

Hereditary motor and sensory neuropathy-Lom (with deafness) Peripheral neuropathy and agenesis of the corpus callosum Distal hereditary motor neuropathy type II Distal hereditary motor neuropathy type VII Hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) Giant axonal neuropathy Hereditary motor and sensory neuropathy-Russe

Hereditary paraplegias X

X X

X X

X

Spastic paraplegia X-linked, uncomplicated

604187 604805 270800

270200 604360 312900

De Michele et al (1998) Casari et al. (1998) Pigg et al. (1994) De Laurenzi et al. (1996) Martinez Murillo et al. (1999) Kenwrick et al. (1986) Jouet et al. (1994) Vits et al. (1994) Keppen et al. (1987) Saugier-Veber et al. (1994) Kobayashi et al. (1994)

Other neuromuscular disorders

Notes to Gene Location Table

135700

Neuromuscular disorders: gene location

689

a

Inheritance: XR: sex-linked recessive; AD: autosomal dominant; AR: autosomal recessive. Location: chromosomal assignment of the morbid locus, or of the gene when known. c 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. d MIM: reference number in McKusick VA. Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-linked Phenotypes, 11th Edn. Baltimore: Johns Hopkins University Press, 1994. Online version: OMIM (Online Mendelian Inheritance in Man), accessible via Internet: http://www3.nebi.nlm.nih.gov/Omim/searchomim.html e Key references: new key references are printed in bold in the table, and are listed below. For a full reference list please refer to Neuromuscular Disorders Vol. 11 No. 1, pp. 104±120. b

This table has been prepared by Jean-Claude Kaplan, Laboratoire de Biochimie GeÂneÂtique, HoÃpital Cochin-MaterniteÂs, 123 Boulevard de Port Royal, 75014 Paris, France, Tel.: (+33) 1-4441-1520; fax: (+33) 1-4441-1522; e-mail: [email protected], and Bertrand Fontaine, INSERM CJF 9711, Faculte de MeÂdecine PitieÂ-SalpeÃtrieÁre, 105 Boulevard de l'HoÃpital, 75013 Paris, France, Tel.: (+33) 1-4077-8118; fax: (+33) 1-4077-8117; e-mail: fontaine@ infobiogen.fr

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