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

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
Nemaline myopathy (NEM1) - (AD)
3.1
1347195
7663526
TPM3 (1q21.2)
Tropomyosin 3
* Nemaline myopathy 1, autosomal dominant - NEM1
Nemaline myopathy (NEM2) - (AR)
3.2
10051637
12207937
16917880
8580725
NEB (2q22)
Nebulin
* Nemaline myopathy 2, autosomal recessive - NEM2
Nemaline myopathy (NEM3) - (AD)
3.3
10508519
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
Nemaline myopathy (NEM4) - (AD)
3.4
11738357
TPM2 (9p13)
Tropomyosin 2 (beta)
* Arthrogryposis, distal, type 1A - DA1A
* arthrogryposis, distal, type 2B - DA2B
* Cap myopathy, TPM2-related, included
* Nemaline myopathy 4 - NEM4
Nemaline myopathy (NEM5) - (AR)
3.5
10952871
TNNT1 (19q13.4)
Slow troponin T
* Nemaline myopathy 5 - NEM5
Nemaline myopathy (NEM6) - (AD)
3.6
12805120
21109227
KBTBD13 (15q22.31)
Kelch repeat and BTB (POZ) domain containing 13
* Nemaline myopathy 6 - NEM6
Nemaline myopathy (NEM7) - (AR)
3.7
17160903
CFL2 (14q12)
Cofilin 2 (muscle)
* Nemaline myopathy - NEM7
Nemaline myopathy (NEM8) - (AR)
3.8
23746549
KLHL40 (2p22.1)
Kelch-like family member 40
* Severe autosomal-recessive nemaline myopathy - NEM8
Nemaline myopathy (NEM9) - (AR)
3.9
24268659
KLHL41 (2q31.1)
Kelch-like family member 41
* Nemaline myopathy - NEM9
Nemaline myopathy (NEM10) - (AR)
3.10
25250574
LMOD3 (3p14.1)
Leiomodin 3 (fetal)
* Nemaline myopathy - NEM10
Myopathy, congenital, with fiber-type disproportion - (AD)
3.11
10508519
14575234
15468086
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
Myopathy, congenital, with fiber-type disproportion - (AR)
3.12
16365872
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
Myopathy congenital, with fiber-type disproportion - (AR)
3.13
14575234
TPM3 (1q21.2)
Tropomyosin 3
* Nemaline myopathy 1, autosomal dominant - NEM1
Myopathy, congenital, with fiber-type disproportion - (AR)
3.14
18300303
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)
* centronuclear myopathy, recessive
* minicore myopathy with external ophthalmoplegia
* myopathy, congenital, with fiber-type disproportion - CFTD
* Malignant hyperthermia susceptibility 1 - MHS1
* Central core disease - CCD
Myopathy, congenital, with fiber-type disproportion - (AD)
3.15
21288719
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta
* Cardiomyopathy, dilated, 1S - CMD1S
* myopathy, congenital, with fiber-type disproportion - CFTD
* Myopathy, distal 1 - MPD1
* cardiomyopathy, familial hypertrophic, 1, included - CMH1
* Myosin storage myopathy
Myotubular myopathy - (XR)
3.16
10790201
2352256
8640223
9305655
MTM1 (Xq28)
Myotubularin
* Myotubular myopathy, X-linked - MTM1
Centronuclear myopathy, dominant - (AD)
3.17
12124989
16227997
DNM2 (19p13.2)
Dynamin 2
* centronuclear myopathy, dominant - CNM
Centronuclear myopathy, related to BIN1, recessive - (AR)
3.18
17676042
BIN1 (2q14)
Amphiphysin
* Centronuclear myopathy, related to BIN1, recessive
* Centronuclear myopathy, related to BIN1, dominant
Centronuclear myopathy, related to BIN1, dominant - (AD)
3.19
25260562
BIN1 (2q14)
Amphiphysin
* Centronuclear myopathy, related to BIN1, recessive
* Centronuclear myopathy, related to BIN1, dominant
Centronuclear myopathy related to RYR1 - (AR)
3.20
20839240
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)
* centronuclear myopathy, recessive
* minicore myopathy with external ophthalmoplegia
* myopathy, congenital, with fiber-type disproportion - CFTD
* Malignant hyperthermia susceptibility 1 - MHS1
* Central core disease - CCD
Centronuclear myopathy related to TTN - (AD)
3.21
23975875
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
* Autosomal dominant myopathy with proximal muscle weakness and early respiratory
* Tibial muscular dystrophy, tardive - TMD
* Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J
Centronuclear myopathy with dilated cardiomyopathy - (AR)
3.22
25087613
SPEG (2q35)
SPEG complex locus
* Centronuclear myopathy with dilated cardiomyopathy
Central core disease, dominant - (AD)
3.23
1889818
8220422
8220423
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)
* centronuclear myopathy, recessive
* minicore myopathy with external ophthalmoplegia
* myopathy, congenital, with fiber-type disproportion - CFTD
* Malignant hyperthermia susceptibility 1 - MHS1
* Central core disease - CCD
Central core disease, recessive (transient multiminicore myopathy) - (AR)
3.24
12112081
12136074
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)
* centronuclear myopathy, recessive
* minicore myopathy with external ophthalmoplegia
* myopathy, congenital, with fiber-type disproportion - CFTD
* Malignant hyperthermia susceptibility 1 - MHS1
* Central core disease - CCD
Multiminicore disease with external ophtalmopegia - (AR)
3.25
12719381
16380615
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)
* centronuclear myopathy, recessive
* minicore myopathy with external ophthalmoplegia
* myopathy, congenital, with fiber-type disproportion - CFTD
* Malignant hyperthermia susceptibility 1 - MHS1
* Central core disease - CCD
Multiminicore disease, classical form - (AR)
3.26
12192640
15122708
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
Early onset myopathy, areflexia, respiratory distress and dysphagia - (AR)
3.27
22101682
MEGF10 (5q23.2)
Multiple EGF-like-domains 10
* Recessive congenital myopathy with minicores
* Early onset myopathy, areflexia, respiratory distress and dysphagia - EMARDD
Recessive congenital myopathy with minicores - (AR)
3.28
22371254
MEGF10 (5q23.2)
Multiple EGF-like-domains 10
* Recessive congenital myopathy with minicores
* Early onset myopathy, areflexia, respiratory distress and dysphagia - EMARDD
Hyaline body myopathy - (AR)
3.29
14659406
? - (3p22.2-p21.32)
* Hyalin body myopathy - HBM
Hyaline body myopathy,dominant (myosin storage myopathy) - (AD)
3.30
15136674
15699387
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta
* Cardiomyopathy, dilated, 1S - CMD1S
* myopathy, congenital, with fiber-type disproportion - CFTD
* Myopathy, distal 1 - MPD1
* cardiomyopathy, familial hypertrophic, 1, included - CMH1
* Myosin storage myopathy
Myosin storage myopathy and cardiomyopathy, recessive - (AR)
3.31
17372140
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta
* Cardiomyopathy, dilated, 1S - CMD1S
* myopathy, congenital, with fiber-type disproportion - CFTD
* Myopathy, distal 1 - MPD1
* cardiomyopathy, familial hypertrophic, 1, included - CMH1
* Myosin storage myopathy
Myosin lia myopathy, dominant (inclusion body myopathy) - (AD)
3.32
10205275
11114175
MYH2 (17p13.1)
Myosin, heavy polypeptide 2, skeletal muscle
* Myopathy proximal to ophthalmoplegia, recessive (Inclusion body myopathy 3) - MYPOP
* Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles - IBM3
Myopathy proximal to ophthalmoplegia, dominant (Inclusion body myopathy 3) - (AD)
3.33
20418530
MYH2 (17p13.1)
Myosin, heavy polypeptide 2, skeletal muscle
* Myopathy proximal to ophthalmoplegia, recessive (Inclusion body myopathy 3) - MYPOP
* Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles - IBM3
Myopathy proximal to ophthalmoplegia, recessive (Inclusion body myopathy 3) - (AD)
3.34
20418530
MYH2 (17p13.1)
Myosin, heavy polypeptide 2, skeletal muscle
* Myopathy proximal to ophthalmoplegia, recessive (Inclusion body myopathy 3) - MYPOP
* Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles - IBM3
Isolated inclusion body myopathy - (AD)
3.35
27066560
HNRNPA1 (12q13.13)
heterogeneous nuclear ribonucleoprotein A1
* Isolated inclusion body myopathy - IBMPFD3
* Amyotrophic lateral sclerosis 20 - ALS20
Cap myopathy - (AD)
3.36
17372140
17434307
TPM2 (9p13)
Tropomyosin 2 (beta)
* Arthrogryposis, distal, type 1A - DA1A
* arthrogryposis, distal, type 2B - DA2B
* Cap myopathy, TPM2-related, included
* Nemaline myopathy 4 - NEM4
Cap myopathy - (AD)
3.37
19487656
19553118
TPM3 (1q21.2)
Tropomyosin 3
* Nemaline myopathy 1, autosomal dominant - NEM1
Cap myopathy - (AD)
3.38
20303757
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 neuromuscular disease with uniform type 1 fiber - (-)
3.39
17538032
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)
* centronuclear myopathy, recessive
* minicore myopathy with external ophthalmoplegia
* myopathy, congenital, with fiber-type disproportion - CFTD
* Malignant hyperthermia susceptibility 1 - MHS1
* Central core disease - CCD
Congenital myopathy with fatal cardiomyopathy - (-)
3.40
17444505
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
* Autosomal dominant myopathy with proximal muscle weakness and early respiratory
* Tibial muscular dystrophy, tardive - TMD
* Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J
Congenital skeletal myopathy and fatal cardiomyopathy - (AR)
3.41
19858127
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C
* Cardimyopathy, dilated, 1A - CMD1A
* Dilated cardiomyopathy related to MYBPC3
* congenital skeletal myopathy and fatal cardiomyopathy
* Cardiomyopathy, familial hypertrophic, 4 - CMH4
Congenital lethal myopathy - (AR)
3.42
19026398
CNTN1 (12q11-q12)
Contactin-1
* congenital lethal myopathy
Sarcotubular myopathy - (AR)
3.43
15786463
TRIM32 (9q33.2)
Tripartite motif-containing 32
* Sarcotubular myopathy
* Muscular dystrophy, limb-girdle, type 2H - LGMD2H
Congenital myopathy related to PTPLA - (AR)
3.44
23933735
PTPLA (10p12.33)
Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase
* Congenital myopathy related to PTPLA
Congenital myopathy with ophthalmoplegia related to CACNA1S - (AR)
3.45
26247046
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