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. 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
* LGMDR23
Bethlem myopathy 1 - (AD)
2.2
8782832
COL6A1 (21q22.3)
Alpha 1 type VI collagen
* Bethlem myopathy
* Ullrich congenital muscular dystrophy - UCMD1
* LGMDR22
* LGMDD5
Bethlem myopathy 1 - (AD)
2.3
8782832
COL6A2 (21q22.3)
Alpha 2 type VI collagen
* myosclerosis, autosomal recessive
* LGMDR22
* LGMDD5
* Bethlem myopathy
* Ullrich scleroatonic muscular dystrophy - UCMD1
Bethlem myopathy 1 - (AR)
2.4
8817344
9536084
COL6A2 (21q22.3)
Alpha 2 type VI collagen
COL6A3 (2q37)
Alpha 3 type VI collagen
* myosclerosis, autosomal recessive
* LGMDR22
* LGMDD5
* Bethlem myopathy
* Ullrich scleroatonic muscular dystrophy - UCMD1
* LGMDR22
* LGMDD5
* Bethlem myopathy
* Ullrich congenital muscular dystrophy - UCMD1
Bethlem myopathy 1 - (AR)
2.5
11381124
11506412
COL6A2 (21q22.3)
Alpha 2 type VI collagen
* myosclerosis, autosomal recessive
* LGMDR22
* LGMDD5
* Bethlem myopathy
* Ullrich scleroatonic muscular dystrophy - UCMD1
Ullrich congenital muscular dystrophy 1 - (AR)
2.6
12840783
16130093
COL6A1 (21q22.3)
Alpha 1 type VI collagen
* Bethlem myopathy
* Ullrich congenital muscular dystrophy - UCMD1
* LGMDR22
* LGMDD5
Ullrich congenital muscular dystrophy 1 - (AD)
2.7
11506412
COL6A2 (21q22.3)
Alpha 2 type VI collagen
* myosclerosis, autosomal recessive
* LGMDR22
* LGMDD5
* Bethlem myopathy
* Ullrich scleroatonic muscular dystrophy - UCMD1
Ullrich congenital muscular dystrophy 1 - (AR)
2.8
11992252
COL6A3 (2q37)
Alpha 3 type VI collagen
* LGMDR22
* LGMDD5
* Bethlem myopathy
* Ullrich congenital muscular dystrophy - UCMD1
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, congenital - (AR)
2.12
18852439
COL6A2 (21q22.3)
Alpha 2 type VI collagen
* myosclerosis, autosomal recessive
* LGMDR22
* LGMDD5
* Bethlem myopathy
* Ullrich scleroatonic muscular dystrophy - UCMD1
Rigid spine syndrome 1 - (AR)
2.13
11528383
12192640
9585610
SELENON (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
Congenital muscular dystrophy due to ITGA7 deficiency - (AR)
2.14
9590299
ITGA7 (12q13)
Integrin alpha 7 precursor
* Congenital muscular dystrophy with integrin defect
* Muscular dystrophy, congenital, due to ITGA7 deficiency
Congenital muscular dystrophy related to DNM2 - (AD)
2.15
16227997
19122038
DNM2 (19p13.2)
Dynamin 2
* Charcot-Marie-Tooth disease, dominant intermediate B - CMTDIB
* Myopathy centronuclear, 1 - CNM1
* Lethal Congenital Contracture Syndrome 5 - LCCS5
Congenital musuclar dystrophy related to TCAP - (AR)
2.16
21530252
TCAP (17q12)
Telethonin
* Dilated cardiomyopathy, 1N
* Congenital musuclar dystrophy with telethonin defect
* Hypertrophic cardiomyopathy related to TCAP - CMH25
* Muscular dystrophy, limb-girdle, type 2G - LGMD2G
Congenital muscular dystrophy related to LMNA - (AD)
2.17
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
Muscular dystrophy-dystroglycanopathy (Congenital with brain and eyes anomlies), type A1 - (AR)
2.18
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
* Muscular dystrophy-dystrooglycanopathy (congenital with mental retardation), type B1 - MDDGB1
* Walker-Warburg syndrome - WWS
Muscular dystrophy-dystroglycanopathy (Congenital with brain and eyes anomlies), type A2 - (AR)
2.19
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
Muscular dystrophy-dystroglycanopathy (Congenital with brain and eyes anomlies), type A3 - (AR)
2.20
12588800
19299310
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 (Congenital with brain and eyes anomlies), type A4 - (AR)
2.21
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
Muscular dystrophy-dystroglycanopathy (Congenital with brain and eyes anomlies), type A5 - (AR)
2.22
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
Muscular dystrophy-dystroglycanopathy (Congenital with brain and eyes anomlies), type A6 - (AR)
2.23
12966029
19299310
LARGE1 (22q12.3)
LARGE xylosyl- and glucuronyltransferase 1
* Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB6
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA6
Muscular dystrophy-dystroglycanopathy (Congenital with brain and eyes anomlies), type A7 - (AR)
2.24
22522420
22522421
CRPPA (7p21.2-p21.1)
Isoprenoid synthase domain containing protein
* LGMDR20 - LGMDR20
* Walker-Warburg syndrome (WWS) - MDDGA7
Muscular dystrophy-dystroglycanopathy (Congenital with brain and eyes anomlies), type A8 - (AR)
2.25
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
* LGMDR24
Muscular dystrophy-dystroglycanopathy (Congenital with brain and eyes anomlies), type A9 - (AR)
2.26
24052401
DAG1 (3p21)
Dystroglycan1
* Muscular dystrophy-dystroglycanopathy (limb-girdle) - MDDGC9
* Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A9 - MDDGA9
Muscular dystrophy-dystroglycanopathy (Congenital with brain and eyes anomlies), type A10 - (AR)
2.27
23217329
RXYLT1 (12q14.2)
Ribitol xylosyltransferase 1 (transmembrane protein 5)
* Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 - MDGGA10
Muscular dystrophy-dystroglycanopathy (Congenital with brain and eyes anomlies), type A11 - (AR)
2.28
23453667
B3GALNT2 (1q42.3)
Beta-1,3-N-acetylgalacto-saminyltransferase 2
* Congenital muscular dystrophy with hypoglycosylation of dystroglycan WWWS/MEB li - MDDGA11
Muscular dystrophy-dystroglycanopathy (Congenital with brain and eyes anomlies), type A12 - (AR)
2.29
23519211
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 (Congenital with brain and eyes anomlies), type A13 - (AR)
2.30
23359570
B4GAT1 (11q13.2)
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyl-transferase 1
* Walker-Warburg syndrome (WWS) - MDDGA13
Muscular dystrophy-dystroglycanopathy (Congenital with brain and eyes anomlies), type A14 - (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
Muscular dystrophy-dystrooglycanopathy (congenital with mental retardation), type B1 - (AR)
2.32
31741824
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 (congenital with impaired intellectual development), type B2 - (AR)
2.33
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
Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B3 - (AR)
2.34
11709191
12588800
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 (congenital without impaired intellectual development), type B4 - (AR)
2.35
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
Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B5 - (AR)
2.36
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
Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B6 - (AR)
2.37
12966029
19299310
LARGE1 (22q12.3)
LARGE xylosyl- and glucuronyltransferase 1
* Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB6
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA6
Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B14 - (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
Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B15 - (AR)
2.39
31469168
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
Muscle-eye-brain disease (MEB) - (AD)
2.40
31796684
? - (11q13.2q14.1)
-
Congenital disorder of glycosylation, type Ie - (AR)
2.41
23856421
DPM1 (20q13.13)
Dolichyl-phosphate mannosyltransferase 1, catalytic subunit
* Congenital muscular dystrophy with hypoglycosylation of dystroglycan - CDG1E
Congenital disorder of glycosylation, type 1f - (AR)
2.42
31741824
MPDU1 (17p13.1)
Mannose-P-dolichol utilization defect 1
* Congenital disorder of glycosylation type 1 - CDG1F
Congenital disorder of glycosylation, type 1u - (AR)
2.43
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

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 mitochondrial structural abnormalities (megaconial type) - (AR)
2.44
21665002
CHKB (22q13)
Choline kinase beta
* Congenital muscle dystrophy with mitochondrial structural abnormalities - MDCMC
Congenital muscular dystrophy - (AR)
2.45
10677302
? - (1q42)
* Congenital muscular dystrophy - MDC1B
* Congenital muscular dystrophy with merosin deficiency - MDC1B
Developmental delay with hypotonia, myopathy and brain abnormalities - (AR)
2.46
26742501
GOLGA2 (9q34.113)
Golgin A2
* Developmental delay with hypotonia, myopathy and brain abnormalities - DEDHMB
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
Muscular dystrophy, congenital, with cataracts and intellectual disability - (AR)
2.48
28190456
28190459
INPP5K (17p13.3)
Inositol Polyphosphate-5-Phosphatase K
* Muscular dystrophy, congenital, with cataracts and intellectual disability - MDCCAID
Congenital muscular dystrophy related to MSTO1 - (AR)
2.49
28544275
31130378
31463572
MSTO1 (1q22)
Misato homolog 1 (Drosophila)(M)
* Myopathy, mitochondrial and cerebellar ataxia - MMYAT
Congenital muscular dystrophy related to RYR1
2.50
30715496
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)
* centronuclear myopathy, recessive
* minicore myopathy with external ophthalmoplegia
* myopathy, congenital, with fiber-type disproportion - CFTD
* Fetal akinesia deformation sequence related to RYR1
* Dusty core disease related to RYR1 - DuCD
* Congenital myopathy 1A, dominant, with susceptibility to malignant hyperthermia - CMYP1A
* Congenital myopathy 1B, recessive - CMYP1B
* Malignant hyperthermia susceptibility 1 - MHS1
* Central core disease - CCD
Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations - (AR)
2.51
26322222
29855340
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
Congenital muscular dystrophy, with ou without seizures - (AR)
2.52
29855340
GOSR2 (17q21.32)
Golgi SNAP receptor complex member 2
* Muscular dystrophy related to GOSR2 - GOSR2
Congenital muscular dystrophy with epilepsy - (AR)
2.53
34779586
BET1 (7q21.3 )
BET1 golgi vesicular membrane-trafficking protein
* Congenital muscular dystrophy with epilepsy
Congenital muscular dystrophy related to TRAPPC2L - (AR)
2.54
36849228
TRAPPC2L (16q24.3)
Trafficking protein particle complex 2-like
* Congenital muscular dystrophy related to TRAPPC2L