Catalog

Mitochondrial myopathy with cytochrome C oxidase deficiency

No MMS code

Link to WHO Definition

Mitochondrial myopathy with cytochrome C oxidase deficiency – http://id.who.int/icd/entity/504320485

Rare type of isolated myopathy due to Cytochrome C oxidase deficiency. The clinical presentations of Cytochrome C oxidase deficiency are heterogeneous, and include fatal infantile myopathy with or without a Fanconi-type renal tubulopathy, Leigh syndrome (subacute necrotizing encephalomyelopathy), cardiomyopathy with myopathy, recurrent myoglobinuria, and a ‘‘benign’’ spontaneously reversible Cytochrome C oxidase deficient myopathy