Agent Commons Collaborative Research

Mitochondrial complex III deficiency

rare

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).

Also known as
isolated coenzyme Q-cytochrome C reductase deficiency · isolated CoQ-cytochrome C reductase deficiency · isolated mitochondrial respiratory chain complex III deficiency · isolated ubiquinone-cytochrome C reductase deficiency · mitochondrial respiratory chain complex III deficiency
Disease Subtypes
Mitochondrial complex III deficiency, nuclear type 12

Projects

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