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
Distal recessive myopathy (Miyoshi myopathy) - (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
* Autosomal dominant myopathy with proximal muscle weakness and early respiratory
* Tibial muscular dystrophy, tardive - TMD
* Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J
Distal myopathy with rimmed vacuoles (Nonaka) and Hereditary inclusion body 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 (Laing) - (AD)
4.4
12062252
15322983
7847377
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
Vocal cord and pharyngeal distal myopathy - (AD)
4.5
9837826
MATR3 (5q31)
Matrin 3
* Vocal cord and pharyngeal distal myopathy - VCPDM
* Familial amyotrophic lateral sclerosis - ALS21
Adult onset distal myopathy - (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
Distal myopathy with pes cavus and areflexia (Vacuolar neuromyopathy) - (AD)
4.8
10489050
? - (19p13)
* Muscular dystrophy, autosomal dominant, with rimmed vacuoles - MDRV
Distal myopathy with myotilin defect - (AD)
4.9
16793270
9829275
MYOT (5q31)
Myotilin
* Myofibrillar myopathy, myotilin related - MFM3
* Spheroid body myopathy
* Muscular dystrophy, Limb-Girdle, type 1A - LGMD1A
Distal myopathy with nebulin defect - (AR)
4.10
17525139
NEB (2q22)
Nebulin
* Nemaline myopathy 2, autosomal recessive - NEM2
Distal myopathy with caveolin defect - (AD)
4.11
11805270
15580566
CAV3 (3p25)
Caveolin 3
* Distal myopathy related to caveolin
* cardiomyopathy, familial hypertrophic - CMH
* Creatine phosphokinase, elevated serum - CPK
* 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)
4.12
17337483
LDB3 (10q22)
LIM domain binding 3
* myofibrillar myopathy ZASP-related - MFM4
* cardiomyopathy, dilated 1C - CMD1C
Early onset calf distal myopathy - (AR)
4.13
20096397
ANO5 (11p14-12)
Anoctamin 5
* Early onset calf distal myopathy
* Muscular dystrophy, limb-girdle, type 2L - LGMD2L
Dynamin2 related distal myopathy - (AD)
4.14
16585051
DNM2 (19p13.2)
Dynamin 2
* centronuclear myopathy, dominant - CNM
Early onset distal myopathy with KLHL9 mutations - (AD)
4.15
20554658
KLHL9 (9p21.2-p22.3)
Kelch-like homologue 9
* Early onset distal myopathy with KLHL9 mutations
Filamin C related distal myopathy - (AD)
4.16
21620354
FLNC (7q32)
Filamin C, gamma (actin-binding protein - 280)
* Myopathy, myofibrillar, filamin C-related - MFM5
* Myopathy, distal, 4 - MPD4
Distal myopathy with VCP defect - (AD)
4.17
21684747
VCP (9p13-p12)
Valosin-containing protein
* Distal myopathy related to VCP - IBMPFD
* 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
Adolescent onset distal myopathy - (AR)
4.18
26506222
ADSSL1 (14q32-33)
Adénylosuccinate synthase-like
* Adolescent onset distal myopathy