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. Mitochondrial Myopathies
17. Other neuromuscular disorders

Group 16. MITOCHONDRIAL MYOPATHIES (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
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 - (AD)
16.1
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)
16.2
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)
16.3
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)
16.4
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)
16.5
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)
16.6
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)
16.7
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)
16.8
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)
16.9
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)
16.10
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)
16.11
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)
16.12
9924029
TYMP (22q13.33)
Thymidine phosphorylase
* Mitochondrial DNA depletion syndrome 1 (MNGIE type) - MTDPS1
Mitochondrial DNA depletion syndrome 2 (myopathic type) - (AR)
16.13
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)
16.14
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)
16.15
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)
16.16
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 11 - (AR)
16.17
23313956
MGME1 (20p11.23)
Mitochondrial genome maintenance exonuclease 1(M)
* Mitochondrial DNA depletion syndrome 11 - MTDPS11
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) - (AD)
16.18
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)
16.19
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 14 (cardioencephalomyopathic type) - (AR)
16.20
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
Optic atrophy with or without deafness, ophtalmoplegia, myopathy, ataxia and neuropathy - (AD)
16.21
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)
16.22
15108122
PUS1 (12q24.33)
Pseudouridylate synthase 1(M)
* Mitochondrial myopathy and sideroblastic anemia 1 - MLASA1
Myopathy, lactic acidosis, and sideroblastic anemia-2 - (AR)
16.23
20598274
YARS2 (12p11.21)
Tyrosyl-tRNA synthetase 2, mitochondrial(M)
* Myopathy, lactic acidosis, and sideroblastic anemia-2 - MLASA2
Isolated mitochondrial myopathy - (AD)
16.24
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
Combined oxidative phosphorylation deficiency 43 - (AR)
16.25
30452684
TIMM22 (17q13.3)
Translocase of inner mitochondrial membrane 22(M)
* Combined oxidative phosphorylation deficiency 43 - COXPD43
Mitochondrial complex IV deficiency, nuclear type 18 - (AR)
16.26
31155743
COX6A2 (16p11.2)
Cytochrome c-oxidase, subunit 6A2(M)
* Mitochondrial complex IV deficiency, nuclear type 18 - MC4DN18
Mitochondrial myopathy with severe neurological manifestations - (AR)
16.27
28295037
TMEM65 (8q24.13)
Transmembrane Protein 65
* Mitochondrial myopathy with severe neurological manifestations
Infantile-onset multisystem disease with progressive muscle weakness - (AR)
16.28
25574476
PTRH2 (17q23.1)
Peptidyl-tRNA Hydrolase 2(M)
* Infantile-onset multisystem disease with progressive muscle weakness - IMNEPD
Myopathy, mitochondrial and cerebellar ataxia - (AR)
16.29
28544275
31130378
31463572
MSTO1 (1q22)
Misato homolog 1 (Drosophila)(M)
* Myopathy, mitochondrial and cerebellar ataxia - MMYAT
Mitochondrial myopathy, episodic with or withour atrophy and reversible leukoencephalopathy - (AR)
16.30
30010796
FDX2 (19p13.2)
Ferredoxin(M)
* Mitochondrial myopathy, episodic with or withour atrophy and reversible leukoencephalopathy - MEOAL
Mitochondrial complex I deficiency, nuclear type 29 - (AR)
16.31
27374773
27374774
TMEM126B (11q14.1)
Transmembrane protein 126B(M)
* Mitochondrial complex I deficiency, nuclear type 29 - MC1DN29
Mitochondrial myopathy with lactic acidosis, cognitive impairment and autistic features - (XL)
16.32
32439808
APOO (Xp22.11)
Apolipoprotein O(M)
* Mitochondrial myopathy with lactic acidosis, cognitive impairment and autistic features
Myopathy, mitochondrial progressive, with congenital cataract and developmental delay - (AR)
16.33
19409522
GFER (16p13.3)
Growth Factor ERV1-Like
* Myopathy, mitochondrial progressive, with congenital cataract and developmental delay - MPMCD
Mitochondrial complex IV deficiency, nuclear type 22 - (AR)
16.34
33169484
COX16 (14q24.2)
Cytochrome c Oxidase Assembly Factor 16
* Mitochondrial complex IV deficiency - MC4DN22
Mitochondrial myopathy related to SLC25A26 - (AR)
16.35
35024855
SLC25A26 (3p14.1)
Solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 26
* Mitochondrial myopathy related to SLC25A26
Mitochondrial myopathy and multiple mtDNA deletions - (AR)
16.36
35326425
ENDOG (9q34.11)
Endonuclease G, mitochondrial
* Mitochondrial myopathy and multiple mtDNA deletions
Multiple mitochondrial dysfunctions syndrome 10 - (AR)
16.37
38950322
CIAO1 (2q11.2)
WD40 repeat-containing protein CIAO1
* Multiple mitochondrial dysfunctions syndrome 10 - MMDS10