Catalog

Mitochondrial myopathy with coenzyme Q deficiency

No MMS code

Link to WHO Definition

Mitochondrial myopathy with coenzyme Q deficiency – http://id.who.int/icd/entity/1096543099

The encephalomyopathic form of primary Coenzyme Q10 deficiency, described in few families, is characterised by exercise intolerance, recurrent myoglobinuria, developmental delay, ataxia, and seizures. Coenzyme Q10 deficiency with isolated mitochondrial myopathy and without central nervous system involvement is rare. Skeletal muscle histochemical evaluation reveals ragged red fibres whereas respiratory chain enzyme analyses shows partial reductions in complex I, I + III, and II + III activities. The mean Coenzyme Q10 concentration in skeletal muscle is reduced.