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

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 1 - (AD)
5.1
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
* Myofibrillar myopathy 1 - MFM1
* Myopathy, cardiomyopathy and congenital myasthenic syndrome
* Limb girdle muscular dystrophy 1E (autosomal dominant) - LGMD1E
Myofibrillar myopathy 2 - (AD)
5.2
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
* Charcot-Marie-Tooth disease, axonal, related to CRYAB - CMT2
Myofibrillar myopathy 3 - (AD)
5.3
15111675
MYOT (5q31)
Myotilin
* Myofibrillar myopathy, myotilin related - MFM3
* Spheroid body myopathy
* Muscular dystrophy, Limb-Girdle, type 1A - LGMD1A
Spheroid body myopathy - (AD)
5.4
16380616
MYOT (5q31)
Myotilin
* Myofibrillar myopathy, myotilin related - MFM3
* Spheroid body myopathy
* Muscular dystrophy, Limb-Girdle, type 1A - LGMD1A
Myofibrillar myopathy 4 - (AD)
5.5
15668942
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
Myofibrillar myopathy 5 - (AD, AR)
5.6
15929027
32516863
32887649
FLNC (7q32)
Filamin C, gamma (actin-binding protein - 280)
* Myopathy, myofibrillar, filamin C-related - MFM5
* Myopathy, distal, 4 - MPD4
* Cardiomyopathy, familial hypertrophic, 26 - CMH26
Myofibrillar myopathy 6 - (AD)
5.7
19085932
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3
* myofibrillar myopathy with bag3 defect
* Dilated cardiomyopathy related to BAG3 - CMD1HH
* Charcot-Marie-Tooth disease, axonal, related to BAG3
Myofibrillar myopathy 7 - (AR)
5.8
27484770
27485408
KY (3q22.2)
Kyphoscoliosis peptidase
* Myopathy microfibrillar type 7 - MFM7
Myofibrillar myopathy 8 - (AR)
5.9
27745833
PYROXD1 (12p12.1)
Pyridine nucleotidedisulphide oxidoreductase domain 1
* Early-onset myofibrillar myopathy with PYRODX1 defect
* LGMD related to PYROXD1
* Congenital Myopathy related to PYROXD1
Myofibrillar myopathy 9 with early respiratory failure - (AD)
5.10
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
* 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
Myofibrillar myopathy 10 - (AR)
5.11
32779703
SVIL (10p11.23)
Supervillin
* Myofibrillar myopathy 10 - MFM10
Myofibrillar myopathy 11 - (AR)
5.12
31852522
UNC45B (17q12)
UNC45 Myosin Chaperone B
* Myofibrillar myopathy 11 - MFM11
Desmin-related myopathy with Mallory bodies - (AD)
5.13
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
Cardiac and skeletal aggregate myopathy - (Digenic)
5.14
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
Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy (ARCV7) - (AD)
5.15
10553984
18197198
22395865
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
* Myofibrillar myopathy 1 - MFM1
* Myopathy, cardiomyopathy and congenital myasthenic syndrome
* Limb girdle muscular dystrophy 1E (autosomal dominant) - LGMD1E
Congenital myopathy 21 with early respiratory failure - (AR)
5.16
36264506
DNAJB4 (1p31.1)
DNAJ/HSP40 homolog, subfamily B, member 4
* Myopathy with early respiratory failure
Myofibrillar myopathy related to FILIP1 - (AR)
5.17
37163662
FILIP1 (6q14.1)
Filamin A-interacting protein 1
* Myofibrillar myopathy related to FILIP1
B. Miscellaneous
Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Danon disease - (XD)
5.18
15907287
LAMP2 (Xq24)
Lysosomal-associated membrane protein 2 precursor
* Danon disease
* Glycogen storage disease IIb - GSD2B
Myopathy with excessive autophagia - (XR)
5.19
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)
5.20
24827497
CLN3 (16p11.2)
Ceroid-lipofuscinosis, neuronal 3 (=battenin)
* Autophagic vacuolar myopathy - CLN3
Oculopharyngeal muscular dystrophy - (AD)
5.21
7795598
9462747
PABPN1 (14q11.2-q13)
Poly(A) binding protein, nuclear 1
* Oculopharyngeal muscular dystorphy - OPMD
Oculopharyngodistal myopathy 1 - (AD)
5.22
31332380
LRP12 (8q22.3)
Low density lipoprotein receptor-related protein 12
* Oculopharyngodistal myopathy 1 - OPDM1
* Amyotrophic lateral sclerosis 28 - ALS28
Oculopharyngodistal myopathy 2 - (AD)
5.23
32413282
GIPC1 (19p13.12)
GIPC PDZ Domain-containing family, member 1
* Oculopharyngodistal myopathy 2 - OPDM2
Oculopharyngodistal myopathy 3 - (AD)
5.24
33239111
NOTCH2NLC (1q21.2)
Notch2 N-terminal-like protein
* Neuronal intranuclear inclusion diseases - NIID
* Oculopharyngodistal myopathy
* Charcot-Marie-Tooth disease, axonal, related to NOTCH2NLC - CMT2
Oculopharyngodistal myopathy 4 - (AD)
5.25
35148830
35700120
RILPL1 (12q24.31)
Rab-interacting lysosomal protein-like 1
* Oculopharyngodistal myopathy 4 - OPDM4
Oculopharyngeal muscular dystrophy related to HNRNPA2B1 - (AD)
5.26
35484142
HNRNPA2B1 (7q15.2)
Hetergeneous nuclear ribonucleoprotein A2/B1
* Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia - IBMPFD2
* Oculopharyngeal muscular dystrophy related to HNRNPA2B1
Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - (AR)
5.27
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)
5.28
15215484
MSTN (2q32.2)
Myostatin
* Muscle hypertrophy - MSLHP
Fibrodysplasia ossificans progressiva - (AD)
5.29
16642017
ACVR1 (2q23-q24)
Activin A receptor, type II-like kinase 2
* Fibrodysplasia ossificans progressiva - FOP
Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic) - (AD)
5.30
10746614
CAV3 (3p25.3)
Caveolin 3
* Myopathy distal, Tateyama type - MPDT
* 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
X-linked myopathy with postural muscle atrophy - (XR)
5.31
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)
5.32
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 (1A and 1B) - (XD)
5.33
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)
5.34
10486330
? - (Xp22.3)
* episodic muscle weakness, x-linked - EMWX
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia 1 - (AD)
5.35
15034582
16247064
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
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 - (AD)
5.36
23455423
HNRNPA2B1 (7q15.2)
Hetergeneous nuclear ribonucleoprotein A2/B1
* Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia - IBMPFD2
* Oculopharyngeal muscular dystrophy related to HNRNPA2B1
Isolated inclusion body myopathy - (AD)
5.37
27066560
HNRNPA1 (12q13.13)
Heterogeneous nuclear ribonucleoprotein A1
* Isolated inclusion body myopathy - IBMPFD3
* Amyotrophic lateral sclerosis 20 - ALS20
Myopathy with lactic acidosis, hereditary - (AR)
5.38
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)
5.39
23329375
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
Tubular aggregate myopathy 1 - (AD)
5.40
23332920
24570283
24591628
STIM1 (11p15.4)
Stromal interaction molecule 1
* Tubular aggregate myopathy 1 - TAM1
* Muscle weakness with hyperlaxity, orofacial abnormalities and respiratory infections
Tubular aggregate myopathy 2 - (AD)
5.41
24591628
ORAI1 (12q24.31)
ORAI calcium release-activated calcium modulator 1
* Tubular aggregate myopathy 2 - TAM2
Sarcotubular myopathy - (AR)
5.42
15786463
TRIM32 (9q33.2)
Tripartite motif-containing 32
* Sarcotubular myopathy
* Muscular dystrophy, limb-girdle, type 2H - LGMD2H
Myopathy, sarcoplasmic body - (AD)
5.43
30918256
MB (22q12.3)
Myoglobin
* Myopathy with characteristic sarcoplasmic inclusions
Vacuolar myopathy with CASQ1 aggregates - (AD)
5.44
25116801
CASQ1 (1q21)
Calsequestrin 1 (fast-twitch, skeletal muscle)(M)
* Vacuolar myopathy with CASQ1 aggregates - VMCQA
Lysosomal storage myopathy - (AR)
5.45
33454187
MCOLN1 (19p13.2)
Mucopilin 1
* Lysosomal storage myopathy - ML4
Myopathy, congenital, With excess of muscle spindles - (AD)
5.46
28455154
HRAS (11p15.5)
V-Ha-RAS Harvey Rat Sarcoma Viral
* Myopathy, congenital, With excess of muscle spindles - CMEMS
Myopathy with extrapyramidal signs - (AR)
5.47
24336167
MICU1 (10q22.1)
Mitochondrial Calcium Uptake Protein 1
* Myopathy with extrapyramidal signs - MPXPS
Muscle weakness with hyperlaxity, orofacial abnormalities and respiratory infections - (AR)
5.48
33733462
STIM1 (11p15.4)
Stromal interaction molecule 1
* Tubular aggregate myopathy 1 - TAM1
* Muscle weakness with hyperlaxity, orofacial abnormalities and respiratory infections
Myopathy with myalgia, increased serum creatine kinase and with or without episodic rhabdomyolysis - (AR)
5.49
34581780
MLIP (6p12.1)
Muscular LMNA-interacting protein
* Myopathy with myalgia, increased serum creatine kinase and with or without episodic rhabdomyolysis - MMCKR
Congenital amyotrophy - (AR)
5.50
31070086
CACNA1H (16p13.3)
Calcium channel, voltage-dependent, T type, aplpha-1H subunit
* Congenital amyotrophy
Wieacker-Wolff syndrome - (XLR)
5.51
1915520
23623388
ZC4H2 (Xq11.2)
Zinc Finger C4H2 domain-containing protein
* Wieacker-Wolff syndrome - WRWF