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

16. OTHER NEUROMUSCULAR DISORDERS (See references) - (download list of genes)
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
Torsion dystonia, early onset - (AD)
16.1
10541594
9288096
TOR1A (9q34)
Torsin A
* Torsion dystonia, early onset - EOTD
Myoclonus-dystonia syndrome - (AD)
16.2
1102201
11528394
16227522
SGCE (7q21-q22)
Sarcoglycan, epsilon
* Myoclonus-dystonia syndrome - DYT11
Familial dysautonomia (Riley-Day syndrome) - (AR)
16.3
8102296
IKBKAP (9q31-q33)
Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
* Neuropathy, hereditary sensory and autonomic, type III - HSAN3
* Familial dysautonomia (Riley-Day syndrome)
Familial amyloid neuropathy - (AD)
16.4
6651852
7599630
TTR (18q12.1)
Transthyretin (prealbumin, amyloidosis type I)
* Familial amyloid neuropathy
Fibrosis of extraocular muscles, congenital, 1 - (AD)
16.5
15621876
8075644
KIF21A (12q12)
Kinesin family member 21A
* Fibrosis of extraocular muscles, congenital, 1 - CFEOM1
Fibrosis of extraocular muscles, congenital, 2 - (AR)
16.6
11600883
9683611
PHOX2A (11q13.2)
Paired-like aristaless homeobox protein 2A
* Fibrosis of extraocular muscles, congenital, 2 - CFEOM2
Fibrosis of extraocular muscles, congenital, 3A - (AD)
16.7
10393037
20074521
TUBB3 (16q24)
Tubulin, beta 3
* Fibrosis of extraocular muscles, congenital, 3 - CFEOM3
Fibrosis of extraocular muscles, congenital, 5
16.8
25500261
COL25A1 (4q25)
Collagen, type XXV, alpha-1
* Fibrosis of extraocular muscles, congenital, 5 - CFEOM5
Arthrogryposis, distal, type 1A - (AD)
16.9
12592607
TPM2 (9p13)
Tropomyosin 2 (beta)
* Arthrogryposis, distal, type 1A - DA1A
* arthrogryposis, distal, type 2B - DA2B
* Cap myopathy, TPM2-related, included
* Nemaline myopathy 4 - NEM4
Arthrogryposis, distal, type 1B - (AD)
16.10
20045868
MYBPC1 (12q23.2)
Myosin-binding proteinC, slow type
* Arthrogryposis, distal, type 1B - DA1B
Arthrogryposis, distal, type 2A, Freeman-Sheldon syndrome - (AD)
16.11
16642020
MYH3 (17p13)
Myosine, heavy chain 3, skeletal muscle, embryonic
* Arthrogryposis, distal, type 2A - DA2A
* Arthrogryposis, distal, type 2B - DA2B
Arthrogryposis, distal, type 2B, Sheldon-Hall syndrome - (AD)
16.12
12592607
16924011
TNNI2 (11p15.5)
Troponin I, type 2
* Arthrogryposis, distal, type 2B - DA2B
Arthrogryposis, distal, type 2B, Sheldon-Hall syndrome - (AD)
16.13
12865991
TNNT3 (11p15.5)
Troponin T3, skeletal
* Arthrogryposis, distal, type 2B - DA2B
Arthrogryposis, distal, type 2B, Sheldon-Hall syndrome - (AD)
16.14
16642020
MYH3 (17p13)
Myosine, heavy chain 3, skeletal muscle, embryonic
* Arthrogryposis, distal, type 2A - DA2A
* Arthrogryposis, distal, type 2B - DA2B
Arthrogryposis, distal, type 2B, Sheldon-Hall syndrome - (AD)
16.15
17339586
17430991
TPM2 (9p13)
Tropomyosin 2 (beta)
* Arthrogryposis, distal, type 1A - DA1A
* arthrogryposis, distal, type 2B - DA2B
* Cap myopathy, TPM2-related, included
* Nemaline myopathy 4 - NEM4
Arthrogryposis, distal, type 3 - (AD)
16.16
24726473
PIEZO2 (18p11.22-p11.21)
Piezo-type mechanosensitive ion channel component 2
* Arthrogryposis, distal, type 3 - DA3
* Arthrogryposis, distal, type 5 - DA5
Arthrogryposis, distal, type 5 - (AD)
16.17
23487782
PIEZO2 (18p11.22-p11.21)
Piezo-type mechanosensitive ion channel component 2
* Arthrogryposis, distal, type 3 - DA3
* Arthrogryposis, distal, type 5 - DA5
Arthrogryposis, distal, type 7 (Trismus- pseudocamptodactyly syndrome) - (AD)
16.18
15282353
17041932
MYH8 (17p13)
Myosin heavy chain, 8, skeletal muscle, perinatal
* Myosin, heavy chain, perinatal - MYH8
Arthrogryposis multiplex congenita with nesprin-1 defect - (AR)
16.19
19542096
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)
* Dilated cardiomyopathy related to nesprin-1
* Spinocerebellar ataxia, autosomal recessive 8 - SCAR8
* Emery-dreifuss muscular dystrophy 4 - EDMD4
Arthrogryposis multiplex congenita with cerebral and cerebellar atrophy - (AR)
16.20
24319099
CNTNAP1 (17q21.2)
Contactin-Associated Protein 1
* Arthrogryposis multiplex congenita with cerebral and cerebellar atrophy - LCCS7
Fetal akinesia deformation sequance with MUSK defect - (AR)
16.21
25537362
MUSK (9q31.3-q32)
muscle, skeletal, receptor tyrosine kinase
* Congenital myasthenic syndrome related to MuSK - CMS1B
* Fetal akinesia deformation sequance with MUSK defect - FADS
Fetal akinesia deformation sequance with DOK7 defect - (AR)
16.22
18179903
DOK7 (4p16.2)
Docking protein 7
* Familial limb-girdle myasthenia related to DOK7 - CMS1B
* Fetal akinesia deformation sequance with MUSK defect - FADS
Fetal akinesia deformation sequance with Raspin defect - (AR)
16.23
19261599
RAPSN (11p11.2-p11.1)
Rapsyn
* Myasthenic syndrome, congenital - CMS1D
* Fetal akinesia deformation sequance with MUSK defect - FADS
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 - (AD)
16.24
11431686
POLG (15q25)
Polymerase (DNA directed), gamma(M)
* Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - SANDO
* spinocerebellar ataxia with epilepsy, included - SCAE
* Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEOA1
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 - PEOB1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 - (AD)
16.25
10926541
SLC25A4 (4q35)
Mitochondrial carrier; adenine nucleotide translocator(M)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 - (AD)
16.26
11431692
9153451
C10orf2 (10q24.31)
chromosome 10 open reading frame 2(M)
* Spinocerebellar ataxia, infantile-onset, with sensory neuropathy - IOSCA
* Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEO3A
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 - (AD)
16.27
16685652
POLG2 (17q24.1)
Mitochondrial DNA polymerase, accessory subunit(M)
* progressive external ophthalmoplegia, autosomal dominant, 4 - PEOA4
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5 - (AD)
16.28
19664747
RRM2B (8q23.1)
Ribonucleotide reductase M2 B (TP53 inducible)(M)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 - (AR)
16.29
17502560
POLG (15q25)
Polymerase (DNA directed), gamma(M)
* Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - SANDO
* spinocerebellar ataxia with epilepsy, included - SCAE
* Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEOA1
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 - PEOB1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2 - (AR)
16.30
26094573
RNASEH1 (2p25.3)
Ribonuclease H1(M)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2 - PEOB2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 3 - (AR)
16.31
21937588
TK2 (16q22-q23)
Thymidine kinase 2, mitochondrial(M)
* Mitochondrial dna depletion syndrome, myopathic form - MTDPS3
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 3 - PEOB3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 4 - (AR)
16.32
23043144
DGUOK (2p13.1)
Deoxyguanosine kinase(M)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 4 - PEOB4
Mitochondrial DNA depletion myopathy - (AR)
16.33
11687801
TK2 (16q22-q23)
Thymidine kinase 2, mitochondrial(M)
* Mitochondrial dna depletion syndrome, myopathic form - MTDPS3
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 3 - PEOB3
Mitochondrial DNA depletion myopathy, encephalomyopathic form - (AR)
16.34
15877282
SUCLA2 (13q12.2-q13.3)
Succinate-CoA ligase, ADP-forming, beta subunit(M)
* Mitochondrial dna depletion syndrome, myopathic form - MDDS4
Mitochondrial DNA depletion myopathy - (AR)
16.35
17486094
RRM2B (8q23.1)
Ribonucleotide reductase M2 B (TP53 inducible)(M)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5
Mitochondrial myopathy - (AR)
16.36
26541337
SLC25A42 (19p13.11)
solute carrier family 25 member 42(M)
* Mitochondrial myopathy
Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with de - (AD)
16.37
18065439
18158317
OPA1 (3q28-q29)
optic atrophy 1(M)
POLG (15q25)
Polymerase (DNA directed), gamma(M)
* Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with de
* Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - SANDO
* spinocerebellar ataxia with epilepsy, included - SCAE
* Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEOA1
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 - PEOB1
Mitochondrial myopathy and sideroblastic anemia 1 - (AR)
16.38
15108122
PUS1 (12q24.33)
Pseudouridylate synthase 1(M)
* Mitochondrial myopathy and sideroblastic anemia 1 - MLASA1
Myopathy, lactic acidosis, and sideroblastic anemia-2 - (AR)
16.39
20598274
YARS2 (12p11.21)
tyrosyl-tRNA synthetase 2, mitochondrial(M)
* Myopathy, lactic acidosis, and sideroblastic anemia-2 - MLASA2
Autosomal dominant mitochondrial myopathy - (AD)
16.40
25193783
CHCHD10 (22q11.2-q13.2)
Coiled-coil-helix-coiled-coil-helix domain containing 10(M)
* Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS2
* Mitochondrial myopathy
* late-onset spinal motor neuronopathy, Jokela type - SMAJ
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis - (AD)
16.41
24268661
FAM111B (11q12.1)
family with sequence similarity 111 member B
* Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis - POIKTMP
Combined Oxidative phosphorylation Deficiency 6 - (XL)
16.42
28299359
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1(M)
* Neuropathy, axonal motor-sensory, with deafness and mental retardation - NAMSD
* Charcot-Marie-Tooth disease with deafness and mental retardation - NAMSD
* Cowchock syndrome - NAMSD
* Combined Oxidative phosphorylation Deficiency 6 - COXPD6
Mitochondrial myopathy with severe neurological manifestations - (AR)
16.43
28295037
TMEM65 (8q24.13)
Transmembrane Protein 65
* Mitochondrial myopathy with severe neurological manifestations
Mitochondrial complex IV deficiency - (AR)
16.44
28499982
FASTKD2 (2q33.3)
Fast Kinase Domains 2
* MELAS-like syndrome
Infantile-onset multisystem disease with progressive muscle weakness - (AR)
16.45
25574476
PTRH2 (17q23.1)
Peptidyl-tRNA Hydrolase 2
* Infantile-onset multisystem disease with progressive muscle weakness - IMNEPD