Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).

Synonyms: Isolated coenzyme Q-cytochrome C reductase deficiency Isolated mitochondrial respiratory chain complex III deficiency Isolated ubiquinone-cytochrome C reductase deficiency Isolated CoQ-cytochrome C reductase deficiency

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