Catalog
Mitochondrial myopathies
Link to WHO Definition
Mitochondrial myopathies – http://id.who.int/icd/entity/601991549
Mitochondrial myopathies are heterogeneous group of disorders caused by dysfunction of mitochondrial oxidative phosphorylation and can be classified according to the associated biochemical, genetic defects (in the mitochondrial DNA or in nuclear encoded proteins) or clinical phenotype. Exclude: defects of mitochondrial respiratory chain, Kearns-Sayre syndrome, myoclonic epilepsy with ragged red fibres (MERRF)
Parents
Children
- Mitochondrial myopathy with coenzyme Q deficiency
- Mitochondrial neurogastrointestinal encephalopathy
- Mitochondrial myopathy with complex I deficiency
- 9C82.0 Progressive external ophthalmoplegia
- Luft disease
- Mitochondrial myopathy with cytochrome C oxidase deficiency
- 8C73.0 Autosomal recessive cardiomyopathy or ophthalmoplegia
- 5C53.24 Leigh syndrome
- Point mutations of mitochondrial DNA