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 1 - (AD)
3.1
1347195
7663526
TPM3 (1q21.2)
Tropomyosin 3
* Nemaline myopathy 1, autosomal dominant - NEM1
Nemaline myopathy 2 - (AR)
3.2
10051637
12207937
16917880
8580725
NEB (2q22)
Nebulin
* Distal myopathy with nebulin defect
* Nemaline myopathy 2, autosomal recessive - NEM2
Nemaline myopathy 3 - (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
* Left ventricular noncompaction 4 - LVNC4
* Nemaline myopathy 3 - NEM3
Nemaline myopathy 4 - (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 5 - (AR)
3.5
10952871
TNNT1 (19q13.4)
Slow troponin T
* Nemaline myopathy 5 - NEM5
Nemaline myopathy 6 - (AD)
3.6
12805120
21109227
KBTBD13 (15q22.31)
Kelch repeat and BTB (POZ) domain containing 13
* Nemaline myopathy 6 - NEM6
* LGMD related to KBTBD13
Nemaline myopathy 7 - (AR)
3.7
17160903
CFL2 (14q12)
Cofilin 2 (muscle)
* Nemaline myopathy - NEM7
Nemaline myopathy 8 - (AR)
3.8
23746549
KLHL40 (2p22.1)
Kelch-like family member 40
* Severe autosomal-recessive nemaline myopathy - NEM8
Nemaline myopathy 9 - (AR)
3.9
24268659
KLHL41 (2q31.1)
Kelch-like family member 41
* Nemaline myopathy - NEM9
Nemaline myopathy 10 - (AR)
3.10
25250574
LMOD3 (3p14.1)
Leiomodin 3 (fetal)
* Nemaline myopathy - NEM10
Nemaline myopathy 11 - (AE)
3.11
28017374
28220527
MYPN (10q21.1)
Myopalladin
* Hypertrophic cardiomyopathy related to cardiac myopalladin - CMH22
* Nemaline myopathy - NEM11
Klippel-Feil syndrome with Nemalin myopathy and facial dysmorphism - (AR)
3.12
27858739
MYO18B (22q12.1)
Myosin XVIIIB
* Nemaline Myopathy with Cardiomyopathy
* Klippel-Feil syndrome with Nemalin myopathy and facial dysmorphism - KFS4
Myopathy with nemaline bodies - (AR)
3.13
29498452
RYR3 (15q13-q14)
Ryanodine receptor 3
* Myopathy with nemaline bodies
Myopathy, congenital, with fiber-type disproportion 1 - (AD)
3.14
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
* Left ventricular noncompaction 4 - LVNC4
* Nemaline myopathy 3 - NEM3
Myopathy, congenital, with fiber-type disproportion - (AR)
3.15
16365872
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
Myopathy congenital, with fiber-type disproportion - (AR)
3.16
14575234
TPM3 (1q21.2)
Tropomyosin 3
* Nemaline myopathy 1, autosomal dominant - NEM1
Myopathy, congenital, with fiber-type disproportion - (AR)
3.17
18300303
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
* Malignant hyperthermia susceptibility 1 - MHS1
* Central core disease - CCD
Myopathy, congenital, with fiber-type disproportion - (AD)
3.18
21288719
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta
* Cardiomyopathy, dilated, 1S - CMD1S
* Myopathy, distal 1 - MPD1
* cardiomyopathy, familial hypertrophic, 1, included - CMH1
* Left ventricular noncompaction 5 - LVNC5
* Myosin storage myopathy
Myopathy congenital, with fiber-type disproportion - (AR)
3.19
31127036
MYL2 (12q23-q24.3)
Myosin light chain 2
* myopathy, congenital, with fiber-type disproportion - CFTD
* Cardiomyopathy, familial hypertrophic, 10 - CMH10
* Cardiomyopathy, hypertrophic, 10 - CMH10
Myopathy, congenital, with fiber-type disproportion - (AR)
3.20
27816943
MAP3K20 (2q31.1)
Mitogen-activated protein kinase kinase 20
* Centronuclear myopathy 6 with fiber-type disproportion - CNM6
Myotubular myopathy, X-linked - (XR)
3.21
10790201
2352256
8640223
9305655
MTM1 (Xq28)
Myotubularin
* Myotubular myopathy, X-linked - MTM1
Centronuclear myopathy 1 - (AD)
3.22
12124989
16227997
DNM2 (19p13.2)
Dynamin 2
* Charcot-Marie-Tooth disease, dominant intermediate B - CMTDIB
* Myopathy centronuclear, 1 - CNM1
* Lethal Congenital Contracture Syndrome 5 - LCCS5
Centronuclear myopathy 2 - (AD)
3.23
25260562
BIN1 (2q14)
Amphiphysin
* Centronuclear myopathy 2 - CNM2
Centronuclear myopathy related to RYR1 - (AR)
3.24
20839240
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
* Malignant hyperthermia susceptibility 1 - MHS1
* Central core disease - CCD
Centronuclear myopathy (CNM) related to TTN - (AD)
3.25
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
* LGMDR10 (Formerly LGMD2J)
* Lethal Congenital Contracture Syndrome 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 5 - (AR)
3.26
25087613
SPEG (2q35)
SPEG complex locus
* Centronuclear myopathy with dilated cardiomyopathy
Centronuclear myopathy 4 - (AD)
3.27
29498452
CCDC78 (16p13.3)
Coiled-coil domain-containing protein 78
* Centronuclear myopathy 4 - CNM4
Central core disease, dominant - (AD)
3.28
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
* Fetal akinesia deformation sequence related to RYR1
* Dusty core disease related to RYR1 - DuCD
* Malignant hyperthermia susceptibility 1 - MHS1
* Central core disease - CCD
Central core disease, recessive (transient multiminicore myopathy) - (AR)
3.29
12112081
12136074
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
* Malignant hyperthermia susceptibility 1 - MHS1
* Central core disease - CCD
Multiminicore disease with external ophtalmopegia - (AR)
3.30
12719381
16380615
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
* Malignant hyperthermia susceptibility 1 - MHS1
* Central core disease - CCD
Multiminicore disease (MmD), classical form - (AR)
3.31
12192640
15122708
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
Multiminicore disease (MmD) related to TTN - (AR)
3.32
31053406
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
* Autosomal dominant myopathy with proximal muscle weakness and early respiratory
* Tibial muscular dystrophy, tardive - TMD
* Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J
Early onset myopathy, areflexia, respiratory distress and dysphagia - (AR)
3.33
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)
3.34
22371254
MEGF10 (5q23.2)
Multiple EGF-like-domains 10
* Recessive congenital myopathy with minicores
* Early onset myopathy, areflexia, respiratory distress and dysphagia - EMARDD
Myopathy, myosin storage, autosomal dominant - (AD)
3.35
15136674
15699387
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta
* Cardiomyopathy, dilated, 1S - CMD1S
* Myopathy, distal 1 - MPD1
* cardiomyopathy, familial hypertrophic, 1, included - CMH1
* Left ventricular noncompaction 5 - LVNC5
* Myosin storage myopathy
Myopathy, myosin storage, autosomal recessive - (AR)
3.36
17372140
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta
* Cardiomyopathy, dilated, 1S - CMD1S
* Myopathy, distal 1 - MPD1
* cardiomyopathy, familial hypertrophic, 1, included - CMH1
* Left ventricular noncompaction 5 - LVNC5
* Myosin storage myopathy
Myopathy proximal to ophthalmoplegia, recessive (Inclusion body myopathy 3) - (AD/AR)
3.37
20418530
MYH2 (17p13.1)
Myosin, heavy polypeptide 2, skeletal muscle
* Myopathy congenital, with fiber-type disproportion - CFTD
* Myopathy proximal to ophthalmoplegia, recessive (Inclusion body myopathy 3) - MYPOP
* Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles - IBM3
Isolated inclusion body myopathy - (AD)
3.38
27066560
HNRNPA1 (12q13.13)
Heterogeneous nuclear ribonucleoprotein A1
* Isolated inclusion body myopathy - IBMPFD3
* Amyotrophic lateral sclerosis 20 - ALS20
Cap myopathy CAPM1 - (AD, AR)
3.39
19487656
19553118
TPM3 (1q21.2)
Tropomyosin 3
* Nemaline myopathy 1, autosomal dominant - NEM1
Cap myopathy CAPM2 - (AD)
3.40
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)
3.41
20303757
ACTA1 (1q42.1)
Alpha actin, skeletal muscle
* myopathy, congenital, with fiber-type disproportion - CFTD
* Congenital muscular dystrophy with rigid spine related to ACTA1
* Left ventricular noncompaction 4 - LVNC4
* Nemaline myopathy 3 - NEM3
Congenital neuromuscular disease with uniform type 1 fiber (CNMDU1) - (AR, AD)
3.42
17538032
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
* Malignant hyperthermia susceptibility 1 - MHS1
* Central core disease - CCD
Salih myopathy, (Congenital myopathy with fatal cardiomyopathy) - (AR)
3.43
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
* LGMDR10 (Formerly LGMD2J)
* Lethal Congenital Contracture Syndrome 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)
3.44
19858127
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C
* Cardimyopathy, dilated, 1A - CMD1A
* Dilated cardiomyopathy related to MYBPC3
* congenital skeletal myopathy and fatal cardiomyopathy
* Left ventricular noncompaction 10 - LVNC10
* Cardiomyopathy, familial hypertrophic, 4 - CMH4
Congenital myopathy Compton-North - (AR)
3.45
19026398
CNTN1 (12q11-q12)
Contactin-1
* Congenital myopathy Compton-North
Sarcotubular myopathy - (AR)
3.46
15786463
TRIM32 (9q33.2)
Tripartite motif-containing 32
* Sarcotubular myopathy
* Muscular dystrophy, limb-girdle, type 2H - LGMD2H
Congenital myopathy related to HACD1 - (AR)
3.47
23933735
HACD1 (10p12.33)
Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase
* Arrhythmogenic right ventricular cardiomyopathy 6 - ARVC6
* Arrhythmogenic right ventricular dysplasia, familial, 6 - ARVD6
* Congenital myopathy related to PTPLA
Congenital myopathy with ophthalmoplegia related to CACNA1S - (AR)
3.48
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
Myopathy, Congenital, With Neuropathy And Deafness - (AR)
3.49
28540413
SPTBN4 (19q13)
Spectrin, Beta, Nonerythrocytic, 4
* Myopathy, Congenital, With Neuropathy And Deafness - CMND
Myopathy, congenital, With excess of muscle spindles - (AD)
3.50
28455154
HRAS (11p15.5)
V-Ha-RAS Harvey Rat Sarcoma Viral
* Myopathy, congenital, With excess of muscle spindles - CMEMS
Carey-Fineman-Ziter syndrome (formerly congenital myopathy with Moebius sequence and Robin sequence) - (AR)
3.51
28681861
MYMK (9q34.2)
Myomaker
* Carey-Fineman-Ziter syndrome (formerly congenital myopathy with Moebius sequence and Robin sequence) - CFZS
Myopathy, congenital, Baily-Bloch (Native American myopathy) - (AR)
3.52
23736855
STAC3 (12q13.3)
SH3 and cysteine rich domain 3
* Myopathy, congenital, Bailey-Bloh - MYPBB
* Myopathy, congenital, with malignant hyperthermia susceptibility
Myopathy, congenital, with malignant hyperthermia susceptibility - (AR)
3.53
26700687
STAC3 (12q13.3)
SH3 and cysteine rich domain 3
* Myopathy, congenital, Bailey-Bloh - MYPBB
* Myopathy, congenital, with malignant hyperthermia susceptibility
Myopathy congenital with structured cores and Z-line abnormalities - (AD)
3.54
30701273
ACTN2 (1q42-q43)
Actinin alpha2
* Hypertrophic cardiomyopathy related to actinin-2
* dilated cardiomyopathy, 1aa - CMD1AA
* Myopathy congenital related to ACTN2
Myopathy congenital with fast twitch (type II) fiber atrophy - (AR)
3.55
30215711
MYL1 (2q34)
Myosin, light polypeptide 1, alkali, skeletal fast
* Myopathy congenital with fast twitch (type II) fiber atrophy - MYOFTA
Congenital amyotrophy - (AR)
3.56
31070086
CACNA1H (16p13.3)
Calcium channel, voltage-dependent, T type, aplpha-1H subunit
* Congenital amyotrophy
Congenital multi-minicore myopathy - (AR)
3.57
30770808
FXR1 (3q26.33)
FMR1 autosomal homolog
* Congenital multi-minicore myopathy
Congenital Myopathy related to PAX7 - (AR)
3.58
31092906
PAX7 (1p36.13)
Paired Box gene 7
* Congenital Myopathy related to PAX7
Congenital Myopathy related to SCN4A - (AR)
3.59
26700687
28262468
30283817
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha
* Hyperkalemic periodic paralysis - HYPP
* Myotonia potassium-aggravatd
* Sodium-channel myasthenia
* Myasthenic syndrome, acetazolamide-responsive
* Congenital Myopathy related to SCN4A
* Severe foetal hypokinesia related to SCN4A
* Hyperkalemic periodic paralysis, type 2 - HOKPP2
* Paramyotonia congenita of Von Eulenburg - PMC
* Potassium-aggravated myotonia
Congenital Myopathy related to PYROXD1 - (AR)
3.60
28220527
PYROXD1 (12p12.1)
Pyridine nucleotidedisulphide oxidoreductase domain 1
* Early-onset myofibrillar myopathy with PYRODX1 defect
* LGMD related to PYROXD1
* Congenital Myopathy related to PYROXD1
Congenital Myopathy related to TNPO3 - (AD)
3.61
31192305
31217819
TNPO3 (7q32.1-q32.2)
Transportin 3
* Muscular dystrophy, Limb-Girdle, Type 1F - LGMD1F
* Congenital Myopathy related to TNPO3
Scapuloperoneal myopathy, MYH7-related - (AD)
3.62
17336526
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta
* Cardiomyopathy, dilated, 1S - CMD1S
* Myopathy, distal 1 - MPD1
* cardiomyopathy, familial hypertrophic, 1, included - CMH1
* Left ventricular noncompaction 5 - LVNC5
* Myosin storage myopathy
Congenital myopathy related to UNC45B - (AR)
3.63
31852522
UNC45B (17q12)
UNC45 Myosin Chaperone B
* Scapuloperoneal myopathy, MYH7-related - SPMM
Dusty core disease related to RYR1 - (AR)
3.64
30611313
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
* Malignant hyperthermia susceptibility 1 - MHS1
* Central core disease - CCD
compteur de visite