Trait
Mitochondrial myopathy
A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers.
Summary
- Body system
- Abnormality of the musculoskeletal system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Changes in these genes cause rare conditions in which Mitochondrial myopathy is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| RFC4replication factor C subunit 4 | Always | In 1 condition |
| TK2thymidine kinase 2 | Always | In 2 conditions |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Very often (80–99%) | In 1 condition |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Very often (80–99%) | In 3 conditions |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Very often (80–99%) | In 2 conditions |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Very often (80–99%) | In 2 conditions |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Very often (80–99%) | In 1 condition |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Very often (80–99%) | In 1 condition |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Very often (80–99%) | In 1 condition |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Very often (80–99%) | In 1 condition |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Very often (80–99%) | In 1 condition |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Very often (80–99%) | In 1 condition |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Very often (80–99%) | In 1 condition |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Very often (80–99%) | In 1 condition |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Very often (80–99%) | In 1 condition |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Very often (80–99%) | In 1 condition |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Very often (80–99%) | In 1 condition |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Very often (80–99%) | In 1 condition |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Very often (80–99%) | In 1 condition |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Very often (80–99%) | In 1 condition |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Very often (80–99%) | In 1 condition |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Very often (80–99%) | In 1 condition |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Very often (80–99%) | In 1 condition |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Very often (80–99%) | In 1 condition |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Very often (80–99%) | In 1 condition |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Very often (80–99%) | In 1 condition |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Very often (80–99%) | In 1 condition |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Very often (80–99%) | In 1 condition |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Very often (80–99%) | In 1 condition |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Very often (80–99%) | In 1 condition |
| PUS1pseudouridine synthase 1 | Very often (80–99%) | In 1 condition |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Very often (80–99%) | In 1 condition |
| TMEM126Btransmembrane protein 126B | Very often (80–99%) | In 1 condition |
| YARS2tyrosyl-tRNA synthetase 2 | Very often (80–99%) | In 1 condition |
| DNA2DNA replication helicase/nuclease 2 | Often (30–79%) | In 1 condition |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Often (30–79%) | In 1 condition |
| OPA1OPA1 mitochondrial dynamin like GTPase | Often (30–79%) | In 1 condition |
| POLGDNA polymerase gamma, catalytic subunit | Often (30–79%) | In 5 conditions |
| POLG2DNA polymerase gamma 2, accessory subunit | Often (30–79%) | In 1 condition |
| RRM1ribonucleotide reductase catalytic subunit M1 | Often (30–79%) | In 1 condition |
Show 29 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Often (30–79%) | In 1 condition |
| SLC25A4solute carrier family 25 member 4 | Often (30–79%) | In 1 condition |
| TOP3ADNA topoisomerase III alpha | Often (30–79%) | In 1 condition |
| TWNKtwinkle mtDNA helicase | Often (30–79%) | In 1 condition |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Sometimes (5–29%) | In 2 conditions |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Sometimes (5–29%) | In 1 condition |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Sometimes (5–29%) | In 2 conditions |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Sometimes (5–29%) | In 2 conditions |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Sometimes (5–29%) | In 2 conditions |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Sometimes (5–29%) | In 2 conditions |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Sometimes (5–29%) | In 2 conditions |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Sometimes (5–29%) | In 2 conditions |
| AGKacylglycerol kinase | Not recorded | In 1 condition |
| CAV3caveolin 3 | Not recorded | In 1 condition |
| FDX2ferredoxin 2 | Not recorded | In 1 condition |
| ISCUiron-sulfur cluster assembly enzyme | Not recorded | In 1 condition |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Not recorded | In 1 condition |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Not recorded | In 1 condition |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Not recorded | In 1 condition |
| MT-CYBmitochondrially encoded cytochrome b | Not recorded | In 1 condition |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Not recorded | In 1 condition |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Not recorded | In 1 condition |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Not recorded | In 1 condition |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Not recorded | In 1 condition |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Not recorded | In 1 condition |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Not recorded | In 1 condition |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Not recorded | In 1 condition |
| PNPLA8patatin like domain 8, phospholipase A2 | Not recorded | In 1 condition |
| TYMPthymidine phosphorylase | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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