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

A. Myofibrillar 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
Myofibrillar myopathy, alpha-B crystallin related - (AD)
5.1
14681890
CRYAB (11q22.3-q23.1)
Crystallin, alpha B
* Dilated cardiomyopathy related to alpha-crystallin
* Myofibrillar myopathy, alpha-B crystallin related
* Myopathy, myofibrillar, 2 - MFM2
Myofibrillar myopathy, desmin-related myopathy - (AD)
5.2
9697706
DES (2q35)
Desmin
* Desmin-related myopathy - DRM
* Limb-Girdle, Muscular dystrophy, type 2R - LGMD2R
* Dilated cardiomyopathy, 1I - CMD1I
* Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy - ARVD7
* Limb girdle muscular dystrophy 1E (autosomal dominant) - LGMD1E
Desmin-related myopathy with Mallory bodies - (AD)
5.3
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
Myopathy myofibrillar - (AD)
5.4
15668942
LDB3 (10q22)
LIM domain binding 3
* myofibrillar myopathy ZASP-related - MFM4
* cardiomyopathy, dilated 1C - CMD1C
Myofibrillar myopathy with arrythmogenic right ventricular cardiomyopathy - (AD)
5.5
10553984
18197198
? - (10q22)
* arrhythmogenic right ventricular dysplasia, familial, 7 - ARVD7
Myopathy myofibrillar - (AD)
5.6
15111675
MYOT (5q31)
Myotilin
* Myofibrillar myopathy, myotilin related - MFM3
* Spheroid body myopathy
* Muscular dystrophy, Limb-Girdle, type 1A - LGMD1A
Spheroid body myopathy - (AD)
5.7
16380616
MYOT (5q31)
Myotilin
* Myofibrillar myopathy, myotilin related - MFM3
* Spheroid body myopathy
* Muscular dystrophy, Limb-Girdle, type 1A - LGMD1A
Myofibrillar myopathy, filamin-C related - (AD)
5.8
15929027
FLNC (7q32)
Filamin C, gamma (actin-binding protein - 280)
* Myopathy, myofibrillar, filamin C-related - MFM5
* Myopathy, distal, 4 - MPD4
Myofibrillar myopathy with BAG3 defect - (AD)
5.9
19085932
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3
* myofibrillar myopathy with bag3 defect
Cardiac and skeletal aggregate myopathy - (Digenic)
5.10
26345447
TRIM54 (2p.23.3)
Tripartite motif-containing 54
TRIM63 (1p36.11)
Tripartite motif containing 63, E3 ubiquitin protein ligase
* Cardiac and skeletal aggregate myopathy
* Cardiac and skeletal aggregate myopathy
Myopathy microfibrillar type 7 - (AR)
5.11
27484770
27485408
KY (3q22.2)
Kyphoscoliosis peptidase
* Myopathy microfibrillar type 7 - MFM7
B. Miscellaneous
Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Danon disease - (XD)
5.12
15907287
LAMP2 (Xq24)
Lysosomal-associated membrane protein 2 precursor
* Danon disease
* Glycogen storage disease IIb - GSD2B
Myopathy with excessive autophagia - (XR)
5.13
10757644
12196656
23315026
24488655
2892402
VMA21 (Xq28)
VMA21 Vacuolar H+-ATPase Homolog (S. Cerevisiae)
* Myopathy, X-linked, with excessive autophagy - XMEA
Autophagic vacuolar myopathy - (AR)
5.14
24827497
CLN3 (16p11.2)
Ceroid-lipofuscinosis, neuronal 3 (=battenin)
* Autophagic vacuolar myopathy
Oculopharyngeal muscular dystrophy - (AD)
5.15
7795598
9462747
PABPN1 (14q11.2-q13)
Poly(A) binding protein, nuclear 1
* Oculopharyngeal muscular dystorphy - OPMD
Autosomal dominant myopathy with proximal muscle weakness and early respiratory muscle involvement (Edstrom myopathy) - (AD)
5.16
10053013
15802564
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
Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - (AR)
5.17
8636409
8696340
PLEC (8q24.3)
plectin
* Limb-girdle, muscular dystrophy, type 2q - LGMD2Q
* Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - MDEBS
* Myasthenic syndrome, with plectin defect
* Limb girdle muscular dystrophy with ophthalmoplegia
Muscle hypertrophy - (AR)
5.18
15215484
MSTN (2q32.2)
Myostatin
* Muscle hypertrophy - MSLHP
Fibrodysplasia ossificans progressiva - (AD)
5.19
16642017
ACVR1 (2q23-q24)
Activin A receptor, type II-like kinase 2
* Fibrodysplasia ossificans progressiva - FOP
Hyperckemia, idiopathic - (AD)
5.20
10746614
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
X-linked myopathy with postural muscle atrophy - (XR)
5.21
18179888
FHL1 (Xq26.3)
Four and a half LIM domain 1
* Scapuloperoneal myopathy, X-linked dominant - SPM
* Emery-dreifuss muscular dystrophy 6 - EDMD6
* X-linked myopathy with postural muscle atrophy - XMPMA
* Myopathy, reducing body, X-linked, childhood-onset
* Rigid spine syndrome related to FHL1 - RSS
* Myopathy, reducing body, X-linked, severe early-onset
* Rigid spine syndrome - RSMD1
Scapuloperoneal myopathy - (XD)
5.22
18179901
FHL1 (Xq26.3)
Four and a half LIM domain 1
* Scapuloperoneal myopathy, X-linked dominant - SPM
* Emery-dreifuss muscular dystrophy 6 - EDMD6
* X-linked myopathy with postural muscle atrophy - XMPMA
* Myopathy, reducing body, X-linked, childhood-onset
* Rigid spine syndrome related to FHL1 - RSS
* Myopathy, reducing body, X-linked, severe early-onset
* Rigid spine syndrome - RSMD1
Reducing body myopathy - (XD)
5.23
18274675
18952429
FHL1 (Xq26.3)
Four and a half LIM domain 1
* Scapuloperoneal myopathy, X-linked dominant - SPM
* Emery-dreifuss muscular dystrophy 6 - EDMD6
* X-linked myopathy with postural muscle atrophy - XMPMA
* Myopathy, reducing body, X-linked, childhood-onset
* Rigid spine syndrome related to FHL1 - RSS
* Myopathy, reducing body, X-linked, severe early-onset
* Rigid spine syndrome - RSMD1
Episodic muscle weakness, X-linked - (XR)
5.24
10486330
? - (Xp22.3)
* episodic muscle weakness, x-linked - EMWX
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia - (AD)
5.25
15034582
16247064
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
Myopathy with exercise intolerance, Swedish type - (AR)
5.26
18304497
ISCU (12q24.1)
Iron-sulfur cluster scaffold homolog (E. coli)(M)
* myopathy with exercise intolerance, swedish type
* myopathy with deficiency of succinate dehydrogenase and aconitase
* myopathy with lactic acidosis, hereditary - HML
Late onset axial myopathy related to RYR1 - (AD)
5.27
23329375
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
Early-onset myofibrillar myopathy with PYRODX1 defect - (AR)
5.28
27745833
PYRODX1 (12p12.1)
Pyridine nucleotidedisulphide oxidoreductase domain 1
* Early-onset myofibrillar myopathy with PYRODX1 defect