8C73
Mitochondrial myopathies
Miopatias mitocondriais
CategoryDefinition
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)
Diagnostic Criteria
Signs & symptoms: Variable depending on the type. Can be caused by mitochondrial DNA mutations or nuclear gene mutations. They can be sporadic or inherited in an autosomal dominant, autosomal recessive, maternal or X-linked pattern.