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
Miyoshi muscular dystrophy 1 - (AR)
4.1
7723968
9731526
DYSF (2p12-14)
Dysferlin
* Miyoshi myopathy - MM
* Muscular dystrophy, limb-girdle, type 2B - LGMD2B
Tibial muscular dystrophy (Udd myopathy) - (AD)
4.2
11294923
12145747
9497249
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
Nonaka Myopathy - (AR)
4.3
11528398
8789455
9124799
GNE (9p13.3)
UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase
* Nonaka myopathy - NM
* Inclusion body myopathy, autosomal recessive - IBM2
Distal myopathy 1 (Laing) - (AD)
4.4
12062252
15322983
7847377
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
Vocal cord and pharyngeal distal myopathy (VCPDM) reclassfied as ALS21 - (AD)
4.5
9837826
MATR3 (5q31)
Matrin 3
* Vocal cord and pharyngeal distal myopathy - VCPDM
* Familial amyotrophic lateral sclerosis - ALS21
Myopathy distal 3 - (AD)
4.6
15036327
? - (8p22-q11)
* Adult onset distal myopathy - MPD3
Welander distal myopathy - (AD)
4.7
10482271
23348830
23401021
TIA1 (2p13)
Cytotoxic granuleassociated RNA binding protein
* Welander distal myopathy - WDM
Welander-like distal myopathy - (Digenic)
4.8
29457785
SQSTM1 (5q35.3)
Sequestosome 1
TIA1 (2p13)
Cytotoxic granuleassociated RNA binding protein
* Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS3
* Myopathy, distal, with rimmed vacuoles - DMRV
* Welander-like distal myopathy
* Welander distal myopathy - WDM
Vacuolar neuromyopathy - (AD)
4.9
10489050
? - (19p13)
* Muscular dystrophy, autosomal dominant, with rimmed vacuoles - MDRV
Distal myopathy with myotilin defect - (AD)
4.10
16793270
9829275
MYOT (5q31)
Myotilin
* Myofibrillar myopathy, myotilin related - MFM3
* Spheroid body myopathy
* Left ventricular hypertrabeculation/non compaction
* Muscular dystrophy, Limb-Girdle, type 1A - LGMD1A
Distal myopathy with nebulin defect - (AR)
4.11
17525139
NEB (2q22)
Nebulin
* Distal myopathy with nebulin defect
* Nemaline myopathy 2, autosomal recessive - NEM2
Distal myopathy with nebulin defect - (AD)
4.12
30679003
NEB (2q22)
Nebulin
* Distal myopathy with nebulin defect
* Nemaline myopathy 2, autosomal recessive - NEM2
Distal myopathy with caveolin defect - (AD)
4.13
11805270
15580566
CAV3 (3p25.3)
Caveolin 3
* Distal myopathy related to caveolin
* cardiomyopathy, familial hypertrophic - CMH
* Creatine phosphokinase, elevated serum - CPK
* Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic)
* Rippling muscle disease - RMD2
* Long QT syndrome 9 - LQT9
* Muscular dystrophy, limb-girdle, type IC - LGMD1C
* Hyperckemia, idiopathic
Late onset distal myopathy (Markesbery-Griggs) - (AD)
4.14
17337483
LDB3 (10q22)
LIM domain binding 3
* myofibrillar myopathy ZASP-related - MFM4
* cardiomyopathy, dilated 1C - CMD1C
* Hypertrophic cardiomyopathy related to ZASP - CMH24
* Left ventricular noncompaction 3 - LVNC3
Miyoshi muscular dystrophy 3 - (AR)
4.15
20096397
ANO5 (11p14-12)
Anoctamin 5
* Miyoshi muscular dystrophy 3 - MMD3
* Muscular dystrophy, limb-girdle, autosomal recessive 12 - LGMDR12
Distal myopathy related to DNM2 - (AD)
4.16
16585051
DNM2 (19p13.2)
Dynamin 2
* Charcot-Marie-Tooth disease, dominant intermediate B - CMTDIB
* Myopathy centronuclear, 1 - CNM1
* Lethal Congenital Contracture Syndrome 5 - LCCS5
Early onset distal myopathy with KLHL9 mutations - (AD)
4.17
20554658
KLHL9 (9p21.2-p22.3)
Kelch-like homologue 9
* Early onset distal myopathy with KLHL9 mutations
Distal Myopathy 4 - (AD)
4.18
21620354
FLNC (7q32)
Filamin C, gamma (actin-binding protein - 280)
* Myopathy, myofibrillar, filamin C-related - MFM5
* Myopathy, distal, 4 - MPD4
* Cardiomyopathy, familial hypertrophic, 26 - CMH26
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 - (AD)
4.19
21684747
VCP (9p13-p12)
Valosin-containing protein
* Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 - IBMPFD1
* Inclusion body myopathy with early-onset paget disease and frontotemporal dement - IBMPFD
* Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia - ALS14
* Scapuloperoneal muscular dystrophy and dropped head syndrome
* Charcot-Marie-Tooth neuropathy Type 2Y - CMT2Y
Distal myopathy 5 - (AR)
4.20
26506222
ADSSL1 (14q32-33)
Adénylosuccinate synthase-like
* Adolescent onset distal myopathy
Myopathy, distal, with rimmed vacuoles - (AD)
4.21
26208961
SQSTM1 (5q35.3)
Sequestosome 1
* Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS3
* Myopathy, distal, with rimmed vacuoles - DMRV
* Welander-like distal myopathy
Myopathy, distal, with rimmed vacuoles - (AD)
4.22
26205529
DNAJB6 (7q36)
HSP-40 homologue, subfamily B, number 6
* LGMDD1
Distal myopathy - (AD)
4.23
31955980
DNAJB6 (7q36)
HSP-40 homologue, subfamily B, number 6
* LGMDD1
Rimmed vacuole myopathy - (AD)
4.24
31403083
HSPB8 (12q24.23)
Heat shock 27kDa protein 8
* Neuropathy, distal hereditary motor, type II - HMN2A
* Rimmed vacuole myopathy
* Charcot-Marie-Tooth neuropathy Type 2L - CMT2L
Distal Myopathy 6, Adult-onset - (AR)
4.25
30900782
ACTN2 (1q42-q43)
Actinin alpha2
* Hypertrophic cardiomyopathy related to actinin-2
* dilated cardiomyopathy, 1aa - CMD1AA
* Myopathy congenital related to ACTN2
Distal Myopathy and motor neuropathy - (AD)
4.26
26718575
HSPB8 (12q24.23)
Heat shock 27kDa protein 8
* Neuropathy, distal hereditary motor, type II - HMN2A
* Rimmed vacuole myopathy
* Charcot-Marie-Tooth neuropathy Type 2L - CMT2L
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