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 1, early onset - (AD)
16.1
10541594
9288096
TOR1A (9q34)
Torsin A
* Torsion dystonia, early onset - EOTD
Myoclonic dystonia 11 - (AD)
16.2
1102201
11528394
16227522
SGCE (7q21-q22)
Sarcoglycan, epsilon
* Myoclonus-dystonia syndrome - DYT11
Hereditary neuropathy, sensory and autonomic (Riley-Day syndrome) - (AR)
16.3
8102296
ELP1 (9q31.3)
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)
Hereditary amyloidosis transthyretin-related - (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, with or without extraocular involvement - (AD)
16.7
10393037
20074521
TUBB3 (16q24.3)
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
* Lethal Congenital Contracture Syndrome 4 - LCCS4
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 2B1, Sheldon-Hall syndrome - (AD)
16.12
12592607
16924011
TNNI2 (11p15.5)
Troponin I, type 2
* Arthrogryposis, distal, type 2B - DA2B
Arthrogryposis, distal, type 2B2 - (AD)
16.13
12865991
TNNT3 (11p15.5)
Troponin T3, skeletal
* Arthrogryposis, distal, type 2B - DA2B
Arthrogryposis, distal, type 2B3 - (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 2B4 - (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 5D - (AR)
16.18
23261301
ECEL1 (2q37.1)
Endothelin-converting enzyme like 1
* Arthrogryposis, distal, type 5D - DA5D
Arthrogryposis, distal, type 7 (Trismus- pseudocamptodactyly syndrome) - (AD)
16.19
15282353
17041932
MYH8 (17p13)
Myosin heavy chain, 8, skeletal muscle, perinatal
* Myosin, heavy chain, perinatal - MYH8
Arthrogryposis, distal, type 10 - (AD)
16.20
17103435
? - (2q31.3-q32.1 )
* Arthrogryposis, distal, type 10 - DA10
Arthrogryposis multiplex congenita with nesprin-1 defect - (AR)
16.21
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 nesprin-1 defect - AMCM
Arthrogryposis and BICD2-related neuromuscular disease - (AD)
16.22
28635954
BICD2 (9q22.31)
Bicaudal D homolog 2 (Drosophila)
* Spinal muscular atrophy, lower extremity, autosomal dominant 2 - SMALED2A
* Spinal muscular atrophy, lower extremity-predominant, autosomal dominant 2B - SMALED2B
* Arthrogryposis and BICD2-related neuromuscular disease
Arthrogryposis and muscular dysplasia - (AD)
16.23
30777867
MET (7q31.2)
MET protooncogene
* Arthrogryposis and muscular dysplasia
Arthrogryposis related to ASCC1 - (AR)
16.24
30327447
ASCC1 (10q22.1)
Activating signal cointegrator 1 complex subunit 1
* Spinal muscular atrophy with congenital bone fractures 2 - SMABF2
* Arthrogryposis related to ASCC1
Neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies - (AR)
16.25
31495489
SMPD4 (2q21.1)
Sphingomyelin phosphodiesterase 4, neutral membrane
* Neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies - NEDMABA
Fetal akinesia deformation sequence 1 - (AR)
16.26
25537362
MUSK (9q31.3-q32)
Muscle, skeletal, receptor tyrosine kinase
* Congenital myasthenic syndrome related to MuSK - CMS1B
* Fetal akinesia deformation sequance with MUSK defect - FADS1
Fetal akinesia deformation sequence 3 - (AR)
16.27
18179903
DOK7 (4p16.2)
Docking protein 7
* Familial limb-girdle myasthenia related to DOK7 - CMS1B
* Fetal akinesia deformation sequence 3 - FADS3
Fetal akinesia deformation sequence 2 - (AR)
16.28
19261599
RAPSN (11p11.2-p11.1)
Rapsyn
* Myasthenic syndrome, congenital - CMS1D
* Fetal akinesia deformation sequence 2 - FADS2
Fetal akinesia deformation sequence 4 - (AR)
16.29
30543681
NUP88 (17p13.2)
Nucleoporin 88kD
* Fetal akinesia deformation sequence 4 - FADS4
Fetal akinesia deformation sequence related to RYR1 - (AR)
16.30
12937085
25476234
30652412
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
* Malignant hyperthermia susceptibility 1 - MHS1
* Central core disease - CCD
Fetal akinesia deformation related to AGRN - (AR)
16.31
31730230
AGRN (1p36.33)
Agrin
* Familial limb girdle myasthenia related to agrin - CMS1B
* Fetal akinesia deformation related to AGRN
Severe foetal hypokinesia related to SCN4A - (AR)
16.32
26700687
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha
* Hyperkalemic periodic paralysis - HYPP
* Myotonia potassium-aggravatd
* Sodium-channel myasthenia
* Myasthenic syndrome, acetazolamide-responsive
* Congenital Myopathy related to SCN4A
* Severe foetal hypokinesia related to SCN4A
* Hyperkalemic periodic paralysis, type 2 - HOKPP2
* Paramyotonia congenita of Von Eulenburg - PMC
* Potassium-aggravated myotonia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 - (AD)
16.33
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
* Mitochondrial DNA depletion syndrome 4B (MNGIE type) - MTDPS4B
* Mitochondrial DNA depletion syndrome 4A (Alpers type) - MTDPS4A
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 - (AD)
16.34
10926541
SLC25A4 (4q35)
Mitochondrial carrier; adenine nucleotide translocator(M)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2
* Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) - MTDPS12A
* Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) - MTDPS12B
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 - (AD)
16.35
11431692
9153451
TWNK (10q23.-q24.1)
Twinkle mtDNA helicase
* 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)
16.36
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)
16.37
19664747
RRM2B (8q23.1)
Ribonucleotide reductase M2 B (TP53 inducible)(M)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5
* Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) - MTDP8A
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 - (AD)
16.38
23352259
DNA2 (10q21.3)
DNA replication helicase 2(M)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 - PEOA6
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 - (AR)
16.39
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
* Mitochondrial DNA depletion syndrome 4B (MNGIE type) - MTDPS4B
* Mitochondrial DNA depletion syndrome 4A (Alpers type) - MTDPS4A
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2 - (AR)
16.40
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)
16.41
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)
16.42
23043144
DGUOK (2p13.1)
Deoxyguanosine kinase(M)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 4 - PEOB4
* Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) - MTDPS3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 - (AR)
16.43
29290614
TOP3A (17p11.2)
DNA topoisomerase III
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 - PEOB5
Mitochondrial DNA depletion syndrome 1 (MNGIE type) - (AR)
16.44
9924029
TYMP (22q13.33)
Thymidine phosphorylase
* Mitochondrial DNA depletion syndrome 1 (MNGIE type) - MTDPS1
Mitochondrial DNA depletion syndrome 2 (myopathic type) - (AR)
16.45
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 syndrome 3 (hepatocerebral type) - (AR)
16.46
11687800
DGUOK (2p13.1)
Deoxyguanosine kinase(M)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 4 - PEOB4
* Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) - MTDPS3
Mitochondrial DNA depletion syndrome 4A (Alpers type) - (AR)
16.47
15122711
16177225
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
* Mitochondrial DNA depletion syndrome 4B (MNGIE type) - MTDPS4B
* Mitochondrial DNA depletion syndrome 4A (Alpers type) - MTDPS4A
Mitochondrial DNA depletion syndrome 4B (MNGIE type) - (AR)
16.48
12825077
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
* Mitochondrial DNA depletion syndrome 4B (MNGIE type) - MTDPS4B
* Mitochondrial DNA depletion syndrome 4A (Alpers type) - MTDPS4A
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) - (AR)
16.49
15877282
SUCLA2 (13q12.2-q13.3)
Succinate-CoA ligase, ADP-forming, beta subunit(M)
* Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) - MTDPS5
Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) - (AR)
16.50
17486094
RRM2B (8q23.1)
Ribonucleotide reductase M2 B (TP53 inducible)(M)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5
* Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) - MTDP8A
Mitochondrial DNA depletion syndrome 8B (MNGIE type) - (AR)
16.51
17486094
RRM2B (8q23.1)
Ribonucleotide reductase M2 B (TP53 inducible)(M)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5
* Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) - MTDP8A
Mitochondrial DNA depletion syndrome 9 (Encephalomyopathic type withmethylmalonic aciduria) - (AR)
16.52
17668387
SUCLG1 (2p11.2)
Succinate-CoA ligase, alpha subunit(M)
* Mitochondrial DNA depletion syndrome 9 (Encephalomyopathic type withmethylmalonic aciduria) - MTDPS9
Mitochondrial DNA depletion syndrome 11 - (AR)
16.53
23313956
MGME1 (20p11.23)
Mitochondrial genome maintenance exonuclease 1(M)
* Mitochondrial DNA depletion syndrome 11 - MTDPS11
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) - (AD)
16.54
27693233
SLC25A4 (4q35)
Mitochondrial carrier; adenine nucleotide translocator(M)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2
* Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) - MTDPS12A
* Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) - MTDPS12B
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) - (AR)
16.55
16155110
SLC25A4 (4q35)
Mitochondrial carrier; adenine nucleotide translocator(M)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2
* Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) - MTDPS12A
* Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) - MTDPS12B
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) - (AR)
16.56
23993193
23993194
FBXL4 (6q16.1-q16.2)
F-box and leucine-rich repeat protein 4
* Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) - MTDPS13
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) - (AR)
16.57
26561570
OPA1 (3q28-q29)
optic atrophy 1(M)
* Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) - MTDPS14
* Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with deafness
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression - (AR)
16.58
26541337
SLC25A42 (19p13.11)
Solute carrier family 25 member 42(M)
* Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression - MECREN
* Mitochondrial myopathy
Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with deafness - (AD)
16.59
18065439
18158317
OPA1 (3q28-q29)
optic atrophy 1(M)
* Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) - MTDPS14
* Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with deafness
Myopathy, lactic acidosis, and sideroblastic anemia 1 - (AR)
16.60
15108122
PUS1 (12q24.33)
Pseudouridylate synthase 1(M)
* Mitochondrial myopathy and sideroblastic anemia 1 - MLASA1
Myopathy, lactic acidosis, and sideroblastic anemia-2 - (AR)
16.61
20598274
YARS2 (12p11.21)
Tyrosyl-tRNA synthetase 2, mitochondrial(M)
* Myopathy, lactic acidosis, and sideroblastic anemia-2 - MLASA2
Isolated mitochondrial myopathy - (AD)
16.62
25193783
CHCHD10 (22q11.2-q13.2)
Coiled-coil-helix-coiled-coil-helix domain containing 10(M)
* Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS2
* late-onset spinal motor neuronopathy, Jokela type - SMAJ
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis - (AD)
16.63
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)
16.64
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, X-linked 4 (Cowchock syndrome) - COWCK
* Charcot-Marie-Tooth disease with deafness and mental retardation - NAMSD
* Combined Oxidative phosphorylation Deficiency 6 - COXPD6
Mitochondrial myopathy with severe neurological manifestations - (AR)
16.65
28295037
TMEM65 (8q24.13)
Transmembrane Protein 65
* Mitochondrial myopathy with severe neurological manifestations
Mitochondrial complex IV deficiency - (AR)
16.66
28499982
FASTKD2 (2q33.3)
Fast Kinase Domains 2
* MELAS-like syndrome
Mitochondrial complex IV deficiency - (AR)
16.67
31155743
COX6A2 (16p11.2)
Cytochrome c-oxidase, subunit 6A2(M)
* Mitochondrial complex IV deficiency
Infantile-onset multisystem disease with progressive muscle weakness - (AR)
16.68
25574476
PTRH2 (17q23.1)
Peptidyl-tRNA Hydrolase 2
* Infantile-onset multisystem disease with progressive muscle weakness - IMNEPD
Dyskinetic cerebral palsy, partial agenesis of the corpus callosum and mitochondrial myopathy - (AR)
16.69
31039582
MRPS25 (3p25.1)
Mitochondrial ribosomal protein S25(M)
* Dyskinetic cerebral palsy, partial agenesis of the corpus callosum and mitochondrial myopathy
Myopathy, mitochondrial and cerebellar ataxia - (AR)
16.70
28544275
31130378
31463572
MSTO1 (1q22)
Misato homolog 1 (Drosophila)(M)
* Myopathy, mitochondrial and cerebellar ataxia - MMYAT
Early onset of mitochondrial myopathy - (AR)
16.71
30452684
TIMM22 (17q13.3)
Translocase of inner mitochondrial membrane 22(M)
* Early onset of mitochondrial myopathy
Coenzyme Q10 deficiency 1 - (AR)
16.72
16400613
COQ2 (4q21.23)
Coenzyme Q2(M)
* Coenzyme Q10 deficiency 1 - COQ10D1
Autosomal recessive spinocerebellar ataxia, 9 with ubiquinone deficiency - (AR)
16.73
18319072
18319074
ADCK3 (1q42.13)
Coenzyme Q8A
* spinocerebellar ataxia, autosomal recessive 9 - SCAR9
* Autosomal recessive spinocerebellar ataxia, 9 with ubiquinone deficiency - SCAR9
Coenzyme Q10 deficiency 5 - (AR)
16.74
-
COQ9 (16q21)
Coenzyme Q9(M)
* Coenzyme Q10 deficiency 5 - COQ10D5
Coenzyme Q10 deficiency 6 - (AR)
16.75
21540551
COQ6 (14q24.3)
Coenzyme Q6(M)
* Coenzyme Q10 deficiency 6 - COQ10D6
Coenzyme Q10 deficiency 7 - (AR)
16.76
25658047
COQ4 (9q34.11)
Coenzyme Q4(M)
* Coenzyme Q10 deficiency 7 - COQ10D7
Coenzyme Q10 deficiency 8 - (AR)
16.77
26084283
COQ7 (16p12.3)
Coenzyme Q7(M)
* Coenzyme Q10 deficiency 8 - COQ10D8
Sensory motor axonal neuropathy and myopathy - (AR)
16.78
30010796
FDX2 (19p13.2)
Ferredoxin(M)
* Sensory motor axonal neuropathy and myopathy
Spectraplakinopathy - (AR)
16.79
32010038
MACF1 (1p34.3)
Microtubule-actin cross-linking factor 1
* Spectraplakinopathy