Isolated complex III deficiency

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Name:
Isolated complex III deficiency
Description:
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).
ORPHAcode:
1460
Synonyms:
Isolated CoQ-cytochrome C reductase deficiency
Isolated coenzyme Q-cytochrome C reductase deficiency
Isolated mitochondrial respiratory chain complex III deficiency
Isolated ubiquinone-cytochrome C reductase deficiency
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Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14