1. Muscular dystrophies5. Other myopathies9. Metabolic myopathies13. Hereditary ataxias
2. Congenital muscular dystrophies6. Myotonic syndromes10. Hereditary cardiomyopathies14. Hereditary motor and sensory neuropathies
3. Congenital myopathies7. Ion channel muscle diseases11. Congenital myasthenic syndromes15. Hereditary paraplegias
4. Distal myopathies8. Malignant hyperthermia12. Spinal muscular atrophies motoneuron diseases16. Mitochondrial Myopathies
17. Other neuromuscular disorders

Grey lines background indicate newly added items
Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Duchenne/Becker Muscular Dystrophies - (XR)
1.1
3282674
3285207
3319190
3607877
3614347
3773991
DMD (Xp21.2)
Dystrophin
* Duchenne muscular dystrophy - DMD
* Becker muscular distrophy - BMD
* Cardiomyopathy, Dilated, 3B - CMD3B
* Cardiomyopathy, dilated, X-linked - XLCM
Emery-Dreifuss muscular dystrophy, X-linked , type 1 - (XR)
1.2
3417305
3466853
7894480
8595407
8595433
EMD (Xq28)
Emerin
* Emery-dreifuss muscular dystrophy 1 - EDMD1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant - (AD)
1.3
10080180
10739764
LMNA (1q22)
Lamin A/C
* Charcot-Marie-Tooth disease, axonal, type 2B1 - CMT2B1
* Hutchinson-Gilford progeria syndrome - HGPS
* Mandibuloacral dysplasia with type a lipodystrophy - MADA
* restrictive dermopathy
* Lipodystrophy, familial partial, type 2 - FPLD2
* Cardiomyopathy, dilated, 1A - CMD1A
* Congenital muscular dystrophy due to LMNA defect (L-CMD)
* Emery-Dreifuss muscular dystrophy, autosomal dominant - EDMD2
* Emery-Dreifuss Autosomal recessive - EDMD3
* Muscular dystrophy, limb-girdle, type 1B - LGMD1B
Emery-Dreifuss muscular dystrophy 3, autosomal recessive - (AR)
1.4
10739764
LMNA (1q22)
Lamin A/C
* Charcot-Marie-Tooth disease, axonal, type 2B1 - CMT2B1
* Hutchinson-Gilford progeria syndrome - HGPS
* Mandibuloacral dysplasia with type a lipodystrophy - MADA
* restrictive dermopathy
* Lipodystrophy, familial partial, type 2 - FPLD2
* Cardiomyopathy, dilated, 1A - CMD1A
* Congenital muscular dystrophy due to LMNA defect (L-CMD)
* Emery-Dreifuss muscular dystrophy, autosomal dominant - EDMD2
* Emery-Dreifuss Autosomal recessive - EDMD3
* Muscular dystrophy, limb-girdle, type 1B - LGMD1B
Emery-Dreifuss muscular dystrophy 4, autosomal dominant - (AD)
1.5
17267447
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)
* Dilated cardiomyopathy related to nesprin-1
* Spinocerebellar ataxia, autosomal recessive 8 - SCAR8
* Emery-dreifuss muscular dystrophy 4 - EDMD4
* Arthrogryposis multiplex congenita with nesprin-1 defect - AMCM
Emery-Dreifuss muscular dystrophy 5, autosomal dominant - (AD)
1.6
17267447
SYNE2 (14q23.2)
Spectrin repeat containing, nuclear envelope 2 (nesprin 2)
* Nesprin-2 related muscular dystrophy - EDMD
Emery-Dreifuss muscular dystrophy 6, X-linked - (XR)
1.7
19716112
FHL1 (Xq26.3)
Four and a half LIM domain 1
* Scapuloperoneal myopathy, X-linked dominant - SPM
* Emery-dreifuss muscular dystrophy 6 - EDMD6
* X-linked myopathy with postural muscle atrophy - XMPMA
* Myopathy, reducing body, X-linked, childhood-onset
* Rigid spine syndrome related to FHL1 - RSS
* Myopathy, reducing body, X-linked, severe early-onset
* Rigid spine syndrome - RSMD1
Emery-Dreifuss muscular dystrophy 7, autosomal dominant - (AD)
1.8
21391237
TMEM43 (3p25.1)
Transmembrane protein 43
* luma related muscular dystrophy
* arrhythmogenic right ventricular dysplasia, familial, 5 - ARVD5
* Emery-dreifuss muscular dystrophy 7 - EDMD7
Myopathy with rigid spine and distal joint contractures (Formerly LGMD2Y) - (AR)
1.9
24856141
30723199
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1
* LAP1B related muscular dystrophy
* Limb-Girdle, Muscular dystrophy, type 2Y - LGMD2Y
* Myopathy, autosomal recessive, with rigid spine and distal joint contractures - MRRSDC
* Congenital myasthenic syndrome
Facio-scapulo-humeral muscular dystrophy, type 1 - (AD)
1.10
12176321
1363881
15674778
16341202
1642238
16632607
1975852
1978143
2037288
20724583
7903581
8111371
8268920
DUX4 (4q35)
Double homeobox 4
* Muscular dystrophy, facioscapulohumeral, type 1A - FSHD1A
Facio-scapulo-humeral muscular dystrophy, type 2
1.11
20975055
21984748
23143600
24075187
SMCHD1 (18p11.32)
Structural maintenance of chromosomes flexible hinge domain containing 1
* Facio-scapulo-humeral muscular dystrophy, type 2 - FSHMD1B
Facio-scapulo-humeral muscular dystrophy - (AR)
1.12
32467133
LRIF1 (1p13.3)
Ligand-Dependent Nuclear Receptor-Interacting Factor 1
* Facio-scapulo-humeral muscular dystrophy - FSHD3
Lipodystrophy, congenital generalized, type 4 - (AD)
1.13
19726876
CAVIN1 (17q21-q2)
Caveolae-associated protein 1(M)
* lipodystrophy, congenital generalized, type 4 - CGL4
Muscular dystrophy with gnathodiaphyseal dysplasia - (AR)
1.14
34291158
ANO5 (11p14-12)
Anoctamin 5
* Miyoshi muscular dystrophy 3 - MMD3
* Muscular dystrophy, limb-girdle, autosomal recessive 12 - LGMDR12
* Muscular dystrophy with gnathodiaphyseal dysplasia
Muscular dystrophy with hearing loss and ovarian insufficiency syndrome - (AR)
1.15
32403198
GGPS1 (1q42.3)
Geranylgeranyl Diphosphate Synthase 1
* Muscular dystrophy with hearing loss and ovarian insufficiency syndrome - MDHLO
Limb girdle muscular dystrophies, dominant
Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Muscular dystrophy, limb-girdle, autosomal dominant 1 - (AD)
1.16
22334415
22366786
9973293
DNAJB6 (7q36)
HSP-40 homologue, subfamily B, number 6
* LGMDD1
Muscular dystrophy, limb-girdle, autosomal dominant 2 - (AD)
1.17
12913210
23543484
23667635
TNPO3 (7q32.1-q32.2)
Transportin 3
* Muscular dystrophy, Limb-Girdle, Type 1F - LGMD1F
* Congenital Myopathy related to TNPO3
Muscular dystrophy, limb-girdle, autosomal dominant 3 - (AD)
1.18
15367920
24647604
HNRNPDL (4q21)
Heterogeneous nuclear ribonucleoprotein D-like
* Limb-Girdle, Muscular dystrophy, type 1G - LGMD1G
Muscular dystrophy, limb-girdle, autosomal dominant 4 - (AD)
1.19
27259757
28881388
CAPN3 (15q15.1-q21.1)
Calpain 3
* LGMDD4
* Muscular dystrophy, limb-girdle, type 2A - LGMD2A
Rippling muscle disease 2 - (AD)
1.20
9536092
9537420
CAV3 (3p25.3)
Caveolin 3
* Myopathy distal, Tateyama type - MPDT
* cardiomyopathy, familial hypertrophic - CMH
* Creatine phosphokinase, elevated serum - CPK
* Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic)
* Rippling muscle disease - RMD2
* Long QT syndrome 9 - LQT9
* Muscular dystrophy, limb-girdle, type IC - LGMD1C
* Hyperckemia, idiopathic
Muscular dystrophy, limb-girdle, type 1H - (AD)
1.21
20068593
? - (3p23-p25)
* Limb-girdle, muscular dystrophy, type 1h - LGMD1H
LGMD related to KBTBD13 - (AD)
1.22
36745799
37167966
FKTN (9q31-q33)
Fukutin
* Walker-Warburg syndrome - WWS
* Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t - MDDGB4
* fukuyama congenital muscular dystrophy - FCMD
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA4
* Cardiomyopathy, dilated, 1X - CMD1X
* Limb-Girdle, Muscular dystrophy, type 2M - LGMD2M
LGMD related to CACNA1S, late-onset - (AD)
1.23
34804722
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit
* Hypokalemic periodic paralysis - CACNL1A3
* Congenital myopathy with ophthalmoplegia related to CACNA1S
* Malignant hyperthermia susceptibility 5 - MHS5
* Hypokalaemic periodic paralysis, type 1 - hypoKPP1
Limb girdle muscular dystrophies, recessive
Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Muscular dystrophy, limb-girdle, autosomal recessive 1 - (AR)
1.24
1505977
1901754
7720071
9150160
CAPN3 (15q15.1-q21.1)
Calpain 3
* LGMDD4
* Muscular dystrophy, limb-girdle, type 2A - LGMD2A
Muscular dystrophy, limb-girdle, autosomal recessive 2 - (AR)
1.25
8012357
9731526
9731527
DYSF (2p12-14)
Dysferlin
* Miyoshi myopathy - MM
* Muscular dystrophy, limb-girdle, type 2B - LGMD2B
Muscular dystrophy, limb-girdle, autosomal recessive 3 - (AR)
1.26
7663524
7668821
8069911
8776597
9192266
SGCA (17q21)
Alpha sarcoglycan
* Muscular dystrophy, limb-girdle, type 2D - LGMD2D
Muscular dystrophy, limb-girdle, autosomal recessive 4 - (AR)
1.27
7581448
7581449
8968749
SGCB (4q12)
Beta sarcoglycan
* Muscular dystrophy, limb-girdle, type 2E - LGMD2E
Muscular dystrophy, limb-girdle, autosomal recessive 5 - (AR)
1.28
1303286
7481775
8242065
8900232
8968757
SGCG (13q12)
Gamma sarcoglycan
* Muscular dystrophy, limb-girdle, type 2C - LGMD2C
Muscular dystrophy, limb-girdle, autosomal recessive 6 - (AR)
1.29
8776597
8841194
SGCD (5q33-q34)
Delta-sarcoglycan
* Dilated Cardiomyopathy, 1L - CMD1L
* Muscular dystrophy, limb-girdle, type 2F - LGMD2F
Muscular dystrophy, limb-girdle, autosomal recessive 7 (Formerly LGMD2G - (AR)
1.30
36745799
37167966
FKTN (9q31-q33)
Fukutin
* Walker-Warburg syndrome - WWS
* Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t - MDDGB4
* fukuyama congenital muscular dystrophy - FCMD
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA4
* Cardiomyopathy, dilated, 1X - CMD1X
* Limb-Girdle, Muscular dystrophy, type 2M - LGMD2M
Muscular dystrophy, limb-girdle, autosomal recessive 8 - (AR)
1.31
11822024
9634523
TRIM32 (9q33.2)
Tripartite motif-containing 32
* Sarcotubular myopathy
* Muscular dystrophy, limb-girdle, type 2H - LGMD2H
Muscular dystrophy, limb-girdle, autosomal recessive 10 - (AR)
1.32
12145747
TTN (2q31)
Titin
* Hereditary myopathy with early respiratory failure - HMERF
* Cardiomyopathy, familial hypertrophic, 9 - CMH9
* Congenital myopathy with fatal cardiomyopathy
* Cardiomyopathy, dilated, 1G - CMD1G
* Centronuclear myopathy related to TTN
* LGMDR10 (Formerly LGMD2J)
* Lethal Congenital Contracture Syndrome related to TTN
* Congenital myopathy 5 with cardiomyopathy (formerly Salih myopathy) - CMYP5 (SALMY)
* Autosomal dominant myopathy with proximal muscle weakness and early respiratory
* Tibial muscular dystrophy, tardive - TMD
* Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J
Muscular dystrophy, limb-girdle, autosomal recessive 12 - (AR)
1.33
17008331
20096397
21186264
ANO5 (11p14-12)
Anoctamin 5
* Miyoshi muscular dystrophy 3 - MMD3
* Muscular dystrophy, limb-girdle, autosomal recessive 12 - LGMDR12
* Muscular dystrophy with gnathodiaphyseal dysplasia
Muscular dystrophy, limb-girdle, autosomal recessive 17 - (AR)
1.34
21109228
PLEC (8q24.3)
Plectin
* Limb-girdle, muscular dystrophy, type 2q - LGMD2Q
* Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - MDEBS
* Myasthenic syndrome, with plectin defect
* Limb girdle muscular dystrophy with ophthalmoplegia
Muscular dystrophy, limb-girdle, autosomal recessive 18 - (AR)
1.35
23830518
TRAPPC11 (4q35.1)
Trafficking protein particle complex 11
* Limb-Girdle, Muscular dystrophy, type 2S - LGMD2S
* Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype - CMD
Muscular dystrophy, limb-girdle, autosomal recessive 21 - (AR)
1.36
27807076
POGLUT1 (3q13.33)
Protein O-Glucosyltransferase 1
* Limb-Girdle, Muscular dystrophy, type 2Z - LGMD2Z
Muscular dystrophy, limb-girdle, autosomal recessive 23 - (AR)
1.37
21953594
LAMA2 (6q22-q23)
Laminin alpha 2 chain of merosin
* Muscular dystrophy, congenital merosin-deficient - MDC1A
* LGMDR23
Muscular dystrophy, limb-girdle, autosomal recessive 25 - (AR)
1.38
26642364
BVES (6q21)
Blood vessel epicardial substance
* Limb-Girdle, Muscular dystrophy, type 2X - LGMD2X
Muscular dystrophy, limb-girdle, autosomal recessive 26 - (AR)
1.39
27259757
POPDC3 (6q21)
Popeye domain-containing protein 3
* LGMDR26 - LGMDR26
Muscular dystrophy, limb-girdle, autosomal recessive 27 - (AR)
1.40
33861953
JAG2 (14q32.33)
Jagged 2
* Muscular dystrophy, LGMDR27 - LGMDR27
Muscular dystrophy; limb-girdle, autosomal recessive 28 - (AR)
1.41
36745799
37167966
HMGCR (5q13.3)
3-Hydroxy-3-methylglutaryl-CoA reductase
* Muscular dystrophy; limb-girdle, autosomal recessive 28 - LGMDR28
Muscular dystrophy, limb-girdle, autosomal recessive 29 - (AR)
1.42
38366623
SNUPN (15q24.2)
Surportin 1
* Muscular dystrophy, limb-girdle, autosomal recessive 29 - LGMDR29
Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C1 - (AR)
1.43
15792865
16717220
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA1
* Muscular dystrophy, Limb-Girdle, type 2K - LGMD2K
* Muscular dystrophy-dystrooglycanopathy (congenital with mental retardation), type B1 - MDDGB1
* Walker-Warburg syndrome - WWS
Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C2 - (AR)
1.44
17923109
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA2
* Walker-Warburg syndrome - WWS
* Limb-girdle, muscular dystrophy, type 2n - LGMD2N
* Muscle-eye-brain disease - MEB
Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C3 - (AR)
1.45
17878207
18195152
19067344
22419172
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase
* Limb-girdle, muscular dystrophy, type 2o - LGMD2O
* Muscular dystrophy, limb-girdle, autosomal recessive 15 - LGMDR15
* Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB3
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA3
Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C4 - (AR)
1.46
36745799
37167966
FKTN (9q31-q33)
Fukutin
* Walker-Warburg syndrome - WWS
* Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t - MDDGB4
* fukuyama congenital muscular dystrophy - FCMD
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA4
* Cardiomyopathy, dilated, 1X - CMD1X
* Limb-Girdle, Muscular dystrophy, type 2M - LGMD2M
Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C5 - (AR)
1.47
10838249
11741828
FKRP (19q13.32)
Fukutin-related protein
* Walker-Warburg syndrome - WWS
* Muscle-eye-brain disease - MEB
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA5
* Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda - MDDGB5
* Muscular dystrophy, limb-girdle, type 2I - LGMD2I
Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C7 - (AR)
1.48
23390185
CRPPA (7p21.2-p21.1)
Isoprenoid synthase domain containing protein
* LGMDR20 - LGMDR20
* Walker-Warburg syndrome (WWS) - MDDGA7
Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C8 - (AR)
1.49
27066570
POMGNT2 (3p22.1)
protein O-linked mannose N-acetylglucosaminyltransferase 2
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, - MDDGA8
* Walker-Warburg syndrome - WWS
* LGMDR24
Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C9 - (AR)
1.50
21388311
DAG1 (3p21)
Dystroglycan1
* Muscular dystrophy-dystroglycanopathy (limb-girdle) - MDDGC9
* Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A9 - MDDGA9
Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C12 - (AR)
1.51
24808015
POMK (8p11.21)
Protein-O-mannose kinase
* Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 - MDDGA12
* Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C12 - MDDGC12
Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C14 - (AR)
1.52
23768512
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B
* Muscle-eye-brain disease - MDDGA14
* Limb-Girdle, Muscular dystrophy, type 2T - MDDGC14
* Congenital Myasthenic syndrome related to GMPPB
Muscular dystrophy-dystroglycanopathy (Limb-gidle), type C15 - (AR)
1.53
19576565
DPM3 (1q22)
Dolichyl-phosphate mannosyltransferase polypeptide 3
* Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B15 - MDDGB15
* Muscle dystrophy with congenital disorder of glycosylation, type Io - CDG1O
Pompe disease (Formerly LGMD2V) - (AR)
1.54
24011652
GAA (17q25.2-q25.3)
Acid alpha-glucosidase preproprotein
* Limb-Girdle, Muscular dystrophy, type 2V - LGMD2V
* Glycogen storage disease II - GSDII
Muscular dystrophy with cardiomyopathy and triangular tongue - (AR)
1.55
25589244
LIMS2 (2q14.3)
LIM and senescent cell antigen-like domains 2
* Limb-Girdle, Muscular dystrophy, type 2W - LGMD2W
Scapuloperoneal muscular dystrophy and dropped head syndrome - (AR)
1.56
24838343
VCP (9p13-p12)
Valosin-containing protein
* Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 - IBMPFD1
* Inclusion body myopathy with early-onset paget disease and frontotemporal dement - IBMPFD
* Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia - ALS14
* Scapuloperoneal muscular dystrophy and dropped head syndrome
* Charcot-Marie-Tooth neuropathy Type 2Y - CMT2Y
LGMD with ophtalmoplegia - (AR)
1.57
25556389
PLEC (8q24.3)
Plectin
* Limb-girdle, muscular dystrophy, type 2q - LGMD2Q
* Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - MDEBS
* Myasthenic syndrome, with plectin defect
* Limb girdle muscular dystrophy with ophthalmoplegia
LGMD related to PYROXD1 - (AR)
1.58
30515627
PYROXD1 (12p12.1)
Pyridine nucleotidedisulphide oxidoreductase domain 1
* Early-onset myofibrillar myopathy with PYRODX1 defect
* LGMD related to PYROXD1
* Congenital Myopathy related to PYROXD1