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
Congenital fibrosis of the extraocular muscles - (AD)
16.5
15621876
8075644
KIF21A (12q12)
Kinesin family member 21A
* Fibrosis of extraocular muscles, congenital, 1 - CFEOM1
Congenital fibrosis of the extraocular muscles - (AR)
16.6
11600883
9683611
PHOX2A (11q13.2)
Paired-like aristaless homeobox protein 2A
* Fibrosis of extraocular muscles, congenital, 2 - CFEOM2
Congenital fibrosis of the extraocular muscles - (AD)
16.7
10393037
20074521
TUBB3 (16q24)
Tubulin, beta 3
* Fibrosis of extraocular muscles, congenital, 3 - CFEOM3
Distal arthrogryposis type 1 - (AD)
16.8
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
Distal arthrogryposis type 2A, Freeman-Sheldon syndrome - (AD)
16.9
12592607
MYH3 (17p13)
Myosine, heavy chain 3, skeletal muscle, embryonic
* Arthrogryposis, distal, type 2A - DA2A
* Arthrogryposis, distal, type 2B - DA2B
Distal arthrogryposis type 2B, Sheldon-Hall syndrome - (AD)
16.10
12592607
16924011
TNNI2 (11p15.5)
Troponin I, type 2
* Arthrogryposis, distal, type 2B - DA2B
Distal arthrogryposis type 2B, Sheldon-Hall syndrome - (AD)
16.11
12865991
TNNT3 (11p15.5)
Troponin T3, skeletal
* Arthrogryposis, distal, type 2B - DA2B
Distal arthrogryposis type 2B, Sheldon-Hall syndrome - (AD)
16.12
12592607
MYH3 (17p13)
Myosine, heavy chain 3, skeletal muscle, embryonic
* Arthrogryposis, distal, type 2A - DA2A
* Arthrogryposis, distal, type 2B - DA2B
Distal arthrogryposis type 2B, Sheldon-Hall syndrome - (AD)
16.13
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 multiplex congenita with nesprin-1 defect - (AR)
16.14
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
Trismus- pseudocamptodactyly - (AD)
16.15
15282353
17041932
MYH8 (17p13)
Myosin heavy chain, 8, skeletal muscle, perinatal
* Myosin, heavy chain, perinatal - MYH8
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 - (AD)
16.16
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 dominant, 2 - (AD)
16.17
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)
16.18
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; PEOA4 - (AD)
16.19
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)
16.20
19664747
RRM2B (8q23.1)
Ribonucleotide reductase M2 B (TP53 inducible)(M)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5
Mitochondrial DNA depletion myopathy - (AR)
16.21
11687801
TK2 (16q22-q23)
Thymidine kinase 2, mitochondrial(M)
* Mitochondrial dna depletion syndrome, myopathic form - MTDPS3
Mitochondrial DNA depletion myopathy, encephalomyopathic form - (AR)
16.22
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)
16.23
17486094
RRM2B (8q23.1)
Ribonucleotide reductase M2 B (TP53 inducible)(M)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5
Mitochondrial myopathy - (AR)
16.24
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)
16.25
18065439
18158317
OPA1 (3q28-q29)
optic atrophy 1(M)
* Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with de
Tubular aggregate myopathy 1 - (AD)
16.26
23332920
24570283
24591628
STIM1 (11p15.4)
Stromal interaction molecule 1
* Tubular aggregate myopathy 1 - TAM1
Tubular aggregate myopathy 2 - (AD)
16.27
24591628
ORAI1 (12q24.31)
ORAI calcium release-activated calcium modulator 1
* Tubular aggregate myopathy 2 - TAM2
Mitochondrial myopathy and sideroblastic anemia 1 - (AR)
16.28
15108122
PUS1 (12q24.33)
Pseudouridylate synthase 1(M)
* Mitochondrial myopathy and sideroblastic anemia 1 - MLASA1
Autosomal dominant mitochondrial myopathy - (AD)
16.29
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
Vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggegates
16.30
25116801
CASQ1 (1q21)
Calsequestrin 1 (fast-twitch, skeletal muscle)(M)
* Vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggegates
Myopathy, lactic acidosis, and sideroblastic anemia-2 - (AR)
16.31
20598274
YARS2 (12p11.21)
tyrosyl-tRNA synthetase 2, mitochondrial(M)
* Myopathy, lactic acidosis, and sideroblastic anemia-2 - MLASA2
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis - (AD)
16.32
24268661
FAM111B (11q12.1)
family with sequence similarity 111 member B
* Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis - POIKTMP