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. Motor neuron diseases16. Other neuromuscular disorders

2. CONGENITAL MUSCULAR DYSTROPHIES (See references) - (download list of genes)
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
Congenital muscular dystrophy with merosin deficient - (AR)
2.1
7550355
7833925
8000914
9158149
LAMA2 (6q22-q23)
Laminin alpha 2 chain of merosin
* Muscular dystrophy, congenital merosin-deficient - MDC1A
Bethlem myopathy - (AD)
2.2
8782832
COL6A1 (21q22.3)
Alpha 1 type VI collagen
* Bethlem myopathy
* Ullrich congenital muscular dystrophy - UCMD
Bethlem myopathy - (AD)
2.3
19949035
COL6A2 (21q22.3)
Alpha 2 type VI collagen
* myosclerosis, autosomal recessive
* Bethlem myopathy
* Ullrich scleroatonic muscular dystrophy - UCMD
Bethlem myopathy - (AR)
2.4
8817344
9536084
COL6A3 (2q37)
Alpha 3 type VI collagen
* Bethlem myopathy
* Ullrich congenital muscular dystrophy - UCMD
Ullrich syndrome (recessive) - (AR)
2.5
11381124
11506412
COL6A2 (21q22.3)
Alpha 2 type VI collagen
* myosclerosis, autosomal recessive
* Bethlem myopathy
* Ullrich scleroatonic muscular dystrophy - UCMD
Ullrich syndrome - (AR)
2.6
12840783
16130093
COL6A1 (21q22.3)
Alpha 1 type VI collagen
* Bethlem myopathy
* Ullrich congenital muscular dystrophy - UCMD
Ullrich syndrome - (AD)
2.7
11381124
COL6A2 (21q22.3)
Alpha 2 type VI collagen
* myosclerosis, autosomal recessive
* Bethlem myopathy
* Ullrich scleroatonic muscular dystrophy - UCMD
Ullrich syndrome - (AR)
2.8
11992252
COL6A3 (2q37)
Alpha 3 type VI collagen
* Bethlem myopathy
* Ullrich congenital muscular dystrophy - UCMD
Ullrich congenital muscular dystrophy 2 - (AR)
2.9
24334604
COL12A1 (6q13-q14)
collagen type XII alpha 1 chain
* Ullrich congenital muscular dystrophy 2 - UCMD2
* Bethlem myopathy 2 - BTHLM2
* COL12A1-related congenital muscular dystrophy
Bethlem myopathy 2 - (AD)
2.10
24334604
COL12A1 (6q13-q14)
collagen type XII alpha 1 chain
* Ullrich congenital muscular dystrophy 2 - UCMD2
* Bethlem myopathy 2 - BTHLM2
* COL12A1-related congenital muscular dystrophy
COL12A1-related congenital muscular dystrophy - (AD)
2.11
27348394
COL12A1 (6q13-q14)
collagen type XII alpha 1 chain
* Ullrich congenital muscular dystrophy 2 - UCMD2
* Bethlem myopathy 2 - BTHLM2
* COL12A1-related congenital muscular dystrophy
Myosclerosis - (AR)
2.12
18852439
COL6A2 (21q22.3)
Alpha 2 type VI collagen
* myosclerosis, autosomal recessive
* Bethlem myopathy
* Ullrich scleroatonic muscular dystrophy - UCMD
Rigid spine syndrome - (AR)
2.13
11528383
12192640
9585610
SEPN1 (1p36.13)
Selenoprotein N1
* Multiminicore disease, classical form
* myopathy, congenital, with fiber-type disproportion - CFTD
* Rigid spine syndrome related to SEPN1 - RSS
* Rigid spine syndrome - RSMD1
* Muscular dystrophy, rigid spine, 1 - RSMD1
* Desmin-related myopathy with Mallory bodies - RSMD1
Rigid spine syndrome - (AR)
2.14
18952429
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
Congenital muscular dystrophy with integrin defect - (AR)
2.15
9590299
ITGA7 (12q13)
Integrin alpha 7 precursor
* Congenital muscular dystrophy with integrin defect
* Muscular dystrophy, congenital, due to ITGA7 deficiency
Congenital muscular dystrophy with dynamin 2 defect - (AD)
2.16
16227997
19122038
DNM2 (19p13.2)
Dynamin 2
* centronuclear myopathy, dominant - CNM
Congenital musuclar dystrophy with telethonin defect - (AR)
2.17
21530252
TCAP (17q12)
Telethonin
* Dilated cardiomyopathy, 1N
* Congenital musuclar dystrophy with telethonin defect
* Muscular dystrophy, limb-girdle, type 2G - LGMD2G
Congenital muscular dystrophy due to LMNA defect (L-CMD) - (AD)
2.18
18551513
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

Congenital muscle dystrophies due to defective glycosylation
Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Fukuyama congenital muscular dystrophy - (AR)
2.19
8275093
9690476
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
Walker-Warburg syndrome - (AR)
2.20
19299310
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
Walker-Warburg syndrome - (AR)
2.21
12369018
16575835
19299310
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA1
* Muscular dystrophy, Limb-Girdle, type 2K - LGMD2K
* Walker-Warburg syndrome - WWS
Walker-Warburg syndrome - (AR)
2.22
15894594
19299310
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
Walker-Warburg syndrome - (AR)
2.23
15121789
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
Walker-Warburg syndrome - (AR)
2.24
12588800
19299310
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase
* Limb-girdle, muscular dystrophy, type 2o - LGMD2O
* Walker-Warburg syndrome - WWS
* Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB3
* Muscle-eye-brain disease - MEB
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA3
Walker-Warburg syndrome - (AR)
2.25
22522420
22522421
ISPD (7p21.2)
Isoprenoid synthase domain containing
* Walker-Warburg syndrome - WWS
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA7
Walker-Warburg syndrome - (AR)
2.26
22958903
POMGNT2 (3p22.1)
protein O-linked mannose N-acetylglucosaminyltransferase 2
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, - MDDGA8
* Walker-Warburg syndrome - WWS
Walker-Warburg syndrome (WWS) - (AR)
2.27
23359570
B3GNT1 (11q13.2)
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyl-transferase 1
* Walker-Warburg syndrome (WWS) - MDDGA13
Muscle-eye-brain disease - (AR)
2.28
11709191
12588800
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase
* Limb-girdle, muscular dystrophy, type 2o - LGMD2O
* Walker-Warburg syndrome - WWS
* Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB3
* Muscle-eye-brain disease - MEB
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA3
Muscle-eye-brain disease - (AR)
2.29
15121789
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
Muscle-eye-brain disease - (AR)
2.30
16701995
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
Muscle-eye-brain disease - (AR)
2.31
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
Congenital muscular dystrophy with hypoglycosylation of dystroglycan - (AR)
2.32
11592034
12654965
19299310
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
Congenital muscular dystrophy with hypoglycosylation of dystroglycan - (AR)
2.33
12966029
19299310
LARGE (22q12.3-q13.1)
Like-glycosyltransferase
* Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB6
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA6
Congenital muscular dystrophy with hypoglycosylation of dystroglycan - (AR)
2.34
23856421
DPM1 (20q13.13)
Dolichyl-phosphate mannosyltransferase 1, catalytic subunit
* Congenital muscular dystrophy with hypoglycosylation of dystroglycan - CDG1E
Congenital muscular dystrophy and abnormal glycosylation of dystroglycan with severe epilepsy - (AR)
2.35
23109149
DPM2 (9q34.13)
Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
* Muscle dystrophy with congenital disorder of glycosylation
* Congenital muscular dystrophy and abnormal glycosylation of dystroglycan with se
Congenital muscular dystrophy with hypoglycosylation of dystroglycan - (XR)
2.36
22492991
ALG13 (Xq23)
UDP-N-acetylglucosami-nyltransferase
* Congenital muscular dystrophy with hypoglycosylation of dystroglycan - CDG1S
Congenital muscular dystrophy with hypoglycosylation of dystroglycan WWWS/MEB like - (AR)
2.37
23453667
B3GALNT2 (1q42.3)
Beta-1,3-N-acetylgalacto-saminyltransferase 2
* Congenital muscular dystrophy with hypoglycosylation of dystroglycan WWWS/MEB li - MDDGA11
Congenital muscular dystrophy with hypoglycosylation of dystroglycan and mental retardation - (AR)
2.38
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
Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 - (AR)
2.39
23217329
TMEM5 (12q14.2)
Transmembrane protein 5
* Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 - MDGGA10
Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 - (AR)
2.40
23519211
POMK (8p11.21)
Protein-O-mannose kinase
* Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 - MDDGA12

Other congenital muscular dystrophies
Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Congenital muscle dystrophy with joint hyperlaxity - (AR)
2.41
16760198
? - (3p23-21)
* Congenital muscle dystrophy with joint hyperlaxity
Congenital muscle dystrophy with mitochondrial structural abnormalities (megaconial type) - (AR)
2.42
21665002
CHKB (22q13)
Choline kinase beta
* Congenital muscle dystrophy with mitochondrial structural abnormalities - MDCMC
Congenital muscular dystrophy - (AR)
2.43
10677302
? - (1q42)
* Congenital muscular dystrophy - MDC1B
* Congenital muscular dystrophy with merosin deficiency - MDC1B
Congenital muscular dystrophy with rigid spine related to ACTA1 - (AR)
2.44
25182138
ACTA1 (1q42.1)
Alpha actin, skeletal muscle
* myopathy, congenital, with fiber-type disproportion - CFTD
* Congenital muscular dystrophy with rigid spine related to ACTA1
* Nemaline myopathy 3 - NEM3
Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype - (AR)
2.45
26322222
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
GOLGA2-related congenital muscle dystrophy with brain involvement - (AR)
2.46
26742501
GOLGA2 (9q34.113)
golgin A2
* GOLGA2-related congenital muscle dystrophy with brain involvement
Muscular dystrophy, congenital Davignon-Chauveau type - (AR)
2.47
27008887
TRIP4 (15q22.31)
thyroid hormone receptor interactor 4
* Muscular dystrophy, congenital Davignon-Chauveau type - MDCD
* Spinal muscular atrophy with congenital bone fractures 1 - SMABF1