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


Nemaline myopathies
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 myopathy 2A, typical - (AD)
3.1
15236405
ACTA1 (1q42.1)
Alpha actin, skeletal muscle
* myopathy, congenital, with fiber-type disproportion - CFTD
* Congenital myopathy 2A, typical - CMYP2A
* Congenital myopathy 2B, severe infantile - CMYP2B
* Left ventricular noncompaction 4 - LVNC4
* Congenital myopathy 2C, severe infantile, dominant - CMYP2C
* Nemaline myopathy 3 - NEM3
Congenital myopathy 2B, severe infantile - (AD)
3.2
10508519
12921789
ACTA1 (1q42.1)
Alpha actin, skeletal muscle
* myopathy, congenital, with fiber-type disproportion - CFTD
* Congenital myopathy 2A, typical - CMYP2A
* Congenital myopathy 2B, severe infantile - CMYP2B
* Left ventricular noncompaction 4 - LVNC4
* Congenital myopathy 2C, severe infantile, dominant - CMYP2C
* Nemaline myopathy 3 - NEM3
Congenital myopathy 2C, severe infantile, dominant - (AD)
3.3
10508519
9185179
ACTA1 (1q42.1)
Alpha actin, skeletal muscle
* myopathy, congenital, with fiber-type disproportion - CFTD
* Congenital myopathy 2A, typical - CMYP2A
* Congenital myopathy 2B, severe infantile - CMYP2B
* Left ventricular noncompaction 4 - LVNC4
* Congenital myopathy 2C, severe infantile, dominant - CMYP2C
* Nemaline myopathy 3 - NEM3
Congenital myopathy 4A, dominant - (AD)
3.4
1347195
7663526
TPM3 (1q21.2)
Tropomyosin 3
* Nemaline myopathy 1, autosomal dominant - NEM1
Congenital myopathy 4B, recessive - (AR)
3.5
19487656
19553118
TPM3 (1q21.2)
Tropomyosin 3
* Nemaline myopathy 1, autosomal dominant - NEM1
Nemaline myopathy 2 - (AR)
3.6
10051637
12207937
16917880
8580725
NEB (2q22)
Nebulin
* Distal myopathy with nebulin defect
* Nemaline myopathy 2, autosomal recessive - NEM2
Nemaline myopathy 4 - (AD)
3.7
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)
3.8
10952871
TNNT1 (19q13.4)
Slow troponin T
* Nemaline myopathy 5 - NEM5
Nemaline myopathy 6 - (AD)
3.9
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)
3.10
17160903
CFL2 (14q12)
Cofilin 2 (muscle)
* Nemaline myopathy - NEM7
Nemaline myopathy 8 - (AR)
3.11
23746549
KLHL40 (2p22.1)
Kelch-like family member 40
* Severe autosomal-recessive nemaline myopathy - NEM8
Nemaline myopathy 9 - (AR)
3.12
24268659
KLHL41 (2q31.1)
Kelch-like family member 41
* Nemaline myopathy - NEM9
Nemaline myopathy 10 - (AR)
3.13
25250574
LMOD3 (3p14.1)
Leiomodin 3 (fetal)
* Nemaline myopathy - NEM10
Nemaline myopathy 11 - (AE)
3.14
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)
3.15
27858739
MYO18B (22q12.1)
Myosin XVIIIB
* Nemaline Myopathy with Cardiomyopathy
* Klippel-Feil syndrome with Nemalin myopathy and facial dysmorphism - KFS4
Congenital myopathy 20 - (AR)
3.16
29498452
RYR3 (15q13-q14)
Ryanodine receptor 3
* Myopathy with nemaline bodies
Nemaline myopathy - (AR)
3.17
29266598
TNNT3 (11p15.5)
Troponin T3, skeletal
* Arthrogryposis, distal, type 2B - DA2B
* Nemalin myopathy with distal arthrogryposis

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

protein
All allelic disease phenotypes - locus/disease symbols
Myopathy, centronuclear, X-linked - (XR)
3.18
10790201
2352256
8640223
9305655
MTM1 (Xq28)
Myotubularin
* Myotubular myopathy, X-linked - MTM1
Myopathy centronuclear 1 - (AD)
3.19
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
Myopathy centronuclear 2 - (AD)
3.20
25260562
BIN1 (2q14)
Amphiphysin
* Centronuclear myopathy 2 - CNM2
Myopathy centronuclear 4 - (AD)
3.21
29498452
CCDC78 (16p13.3)
Coiled-coil domain-containing protein 78
* Centronuclear myopathy 4 - CNM4
Myopathy centronuclear 5 - (AR)
3.22
25087613
SPEG (2q35)
SPEG complex locus
* Centronuclear myopathy 5 - CNM5
Myopathy centronuclear 6 with fiber-type disproportion - (AR)
3.23
27816943
MAP3K20 (2q31.1)
Mitogen-activated protein kinase kinase 20
* Centronuclear myopathy 6 with fiber-type disproportion - CNM6
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
* Congenital myopathy 1A, dominant, with susceptibility to malignant hyperthermia - CMYP1A
* Congenital myopathy 1B, recessive - CMYP1B
* 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
* 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
Congenital myopathy 1A, dominant, with susceptibility to malignant hyperthermia - (AD)
3.26
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
* Congenital myopathy 1A, dominant, with susceptibility to malignant hyperthermia - CMYP1A
* Congenital myopathy 1B, recessive - CMYP1B
* Malignant hyperthermia susceptibility 1 - MHS1
* Central core disease - CCD
Central core disease, recessive (transient multiminicore myopathy) - (AR)
3.27
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
* Congenital myopathy 1A, dominant, with susceptibility to malignant hyperthermia - CMYP1A
* Congenital myopathy 1B, recessive - CMYP1B
* Malignant hyperthermia susceptibility 1 - MHS1
* Central core disease - CCD
Central core disease, recessive (transient multiminicore myopathy) - (AR)
3.28
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
* Congenital myopathy 1A, dominant, with susceptibility to malignant hyperthermia - CMYP1A
* Congenital myopathy 1B, recessive - CMYP1B
* Malignant hyperthermia susceptibility 1 - MHS1
* Central core disease - CCD
Multiminicore disease (MmD) related to TTN - (AR)
3.29
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
* 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
Congenital myopathy 5 with cardiomyopathy (formerly Salih myopathy) - (AR)
3.30
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
* 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
Congenital myopathy 6 with ophtalmoplegia - (AD/AR)
3.31
20418530
MYH2 (17p13.1)
Myosin, heavy polypeptide 2, skeletal muscle
* Congenital myopathy 6 with ophtalmoplegia - CMYP6
Congenital myopathy 7A, myosin storage, autosomal dominant - (AD)
3.32
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
* Congenital myopathy 7B, myosin storage, autosomal recessive - CMYP7B
* Congenital myopathy 7A, myosin storage, autosomal dominant - CMYP7A
* Left ventricular noncompaction 5 - LVNC5
* Myopathy, myosin storage, autosomal dominant - MSMB
* Myosin storage myopathy
Congenital myopathy 7B, myosin storage, autosomal recessive - (AD)
3.33
24828896
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta
* Cardiomyopathy, dilated, 1S - CMD1S
* Myopathy, distal 1 - MPD1
* cardiomyopathy, familial hypertrophic, 1, included - CMH1
* Congenital myopathy 7B, myosin storage, autosomal recessive - CMYP7B
* Congenital myopathy 7A, myosin storage, autosomal dominant - CMYP7A
* Left ventricular noncompaction 5 - LVNC5
* Myopathy, myosin storage, autosomal dominant - MSMB
* Myosin storage myopathy
Congenital myopathy 8 - (AD)
3.34
30701273
ACTN2 (1q42-q43)
Actinin alpha2
* Hypertrophic cardiomyopathy related to actinin-2
* dilated cardiomyopathy, 1aa - CMD1AA
* Myopathy, distal 6, Adult-onset - MPD6
* Congenital myopathy 8 - CMYP8
Congenital myopathy 9A - (AR)
3.35
30770808
FXR1 (3q26.33)
FMR1 autosomal homolog
* Congenital myopathy 9A - CMYP9A
* Congenital myopathy 9B, proximal with minicore - CMYP9B
Congenital myopathy 9B, proximal with minicore - (AR)
3.36
30770808
FXR1 (3q26.33)
FMR1 autosomal homolog
* Congenital myopathy 9A - CMYP9A
* Congenital myopathy 9B, proximal with minicore - CMYP9B
Congenital myopathy 10A, severe variant - (AR)
3.37
22101682
MEGF10 (5q23.2)
Multiple EGF-like-domains 10
* Congenital myopathy 10A, severe variant - CMYP10A
* Congenital myopathy 10B, mild variant - CMYP10B
Congenital myopathy 10B, mild variant - (AR)
3.38
22371254
MEGF10 (5q23.2)
Multiple EGF-like-domains 10
* Congenital myopathy 10A, severe variant - CMYP10A
* Congenital myopathy 10B, mild variant - CMYP10B
Congenital Myopathy 11 - (AR)
3.39
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 11 - CMYP11
Congenital myopathy 12 - (AR)
3.40
19026398
CNTN1 (12q11-q12)
Contactin-1
* Congenital myopathy 12 - CMYP12
Congenital myopathy 13 - (AR)
3.41
23736855
STAC3 (12q13.3)
SH3 and cysteine rich domain 3
* Congenital myopathy 13 - CMYP13
* Myopathy, congenital, with malignant hyperthermia susceptibility
Congenital myopathy 14 - (AR)
3.42
30215711
MYL1 (2q34)
Myosin, light polypeptide 1, alkali, skeletal fast
* Congenital myopathy 14 - CMYP14
Congenital myopathy 15 - (AD)
3.43
33755597
TNNC2 (20q13.12)
Troponin C Fast
* Congenital myopathy 15 - CMYP15
Congenital myopathy 16 - (AD)
3.44
31264822
MYBPC1 (12q23.2)
Myosin-binding proteinC, slow type
* Arthrogryposis, distal, type 1B - DA1B
* Lethal Congenital Contracture Syndrome 4 - LCCS4
* Congenital myopathy 16 - CMYP16
Congenital myopathy 17 - (AR)
3.45
26733463
MYOD1 (11p15.1)
Myogenic Differentiation Antigen 1
* Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies - MYODRIF
Congenital myopathy 18 due to dihydropyridine receptor defect - (AD, AR)
3.46
28012042
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
Congenital myopathy 19 - (AR)
3.47
31092906
PAX7 (1p36.13)
Paired Box gene 7
* Myopathy, congenital, progressive with scoliosis - MYOSCO
Congenital Myopathy 22A, classic - (AR)
3.48
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
* Myasthenic syndrome, congenital, 16 - CMS16
* Severe foetal hypokinesia related to SCN4A
* Congenital Myopathy 22B, severe fetal - CMYP22B
* Congenital Myopathy 22A, classic - CMYP22A
* Hyperkalemic periodic paralysis, type 2 - HOKPP2
* Paramyotonia congenita of Von Eulenburg - PMC
* Potassium-aggravated myotonia
Congenital Myopathy 22B, severe fetal - (AR)
3.49
26700687
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
* Myasthenic syndrome, congenital, 16 - CMS16
* Severe foetal hypokinesia related to SCN4A
* Congenital Myopathy 22B, severe fetal - CMYP22B
* Congenital Myopathy 22A, classic - CMYP22A
* Hyperkalemic periodic paralysis, type 2 - HOKPP2
* Paramyotonia congenita of Von Eulenburg - PMC
* Potassium-aggravated myotonia
Congenital myopathy 23 (Cap myopathy) - (AD)
3.50
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
Myopathy, myosin storage, autosomal dominant (eccentric core disease) - (AR)
3.51
17372140
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta
* Cardiomyopathy, dilated, 1S - CMD1S
* Myopathy, distal 1 - MPD1
* cardiomyopathy, familial hypertrophic, 1, included - CMH1
* Congenital myopathy 7B, myosin storage, autosomal recessive - CMYP7B
* Congenital myopathy 7A, myosin storage, autosomal dominant - CMYP7A
* Left ventricular noncompaction 5 - LVNC5
* Myopathy, myosin storage, autosomal dominant - MSMB
* Myosin storage myopathy
Cap myopathy - (AD)
3.52
20303757
ACTA1 (1q42.1)
Alpha actin, skeletal muscle
* myopathy, congenital, with fiber-type disproportion - CFTD
* Congenital myopathy 2A, typical - CMYP2A
* Congenital myopathy 2B, severe infantile - CMYP2B
* Left ventricular noncompaction 4 - LVNC4
* Congenital myopathy 2C, severe infantile, dominant - CMYP2C
* Nemaline myopathy 3 - NEM3
Congenital skeletal myopathy and fatal cardiomyopathy - (AR)
3.53
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 with ophthalmoplegia related to CACNA1S - (AR)
3.54
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
Carey-Fineman-Ziter syndrome (formerly congenital myopathy with Moebius sequence and Robin sequence) - (AR)
3.55
28681861
MYMK (9q34.2)
Myomaker
* Carey-Fineman-Ziter syndrome (formerly congenital myopathy with Moebius sequence and Robin sequence) - CFZS
Carey-Fineman-Ziter syndrome 2 - (AR)
3.56
35642635
MYMX (6p21.1)
Myomixer
* Carey-Fineman-Ziter syndrome 2 - CFZS2
Myopathy, congenital, with malignant hyperthermia susceptibility - (AR)
3.57
26700687
STAC3 (12q13.3)
SH3 and cysteine rich domain 3
* Congenital myopathy 13 - CMYP13
* Myopathy, congenital, with malignant hyperthermia susceptibility
Congenital Myopathy related to PYROXD1 - (AR)
3.59
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
Dusty core disease related to RYR1 - (AR)
3.60
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
* Congenital myopathy 1A, dominant, with susceptibility to malignant hyperthermia - CMYP1A
* Congenital myopathy 1B, recessive - CMYP1B
* Malignant hyperthermia susceptibility 1 - MHS1
* Central core disease - CCD