mitochondrial complex III deficiency

mitochondrial complex III deficiency

A disorder (OMIM:124000) of the mitochondrial respiratory chain characterised by a variable clinical findings including mitochondrial encephalopathy, psychomotor retardation, ataxia, failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. 

Molecular pathology
Defects of UQCRB and UQCRQ, which encode proteins of the ubiquinol-cytochrome c reductase complex, are a cause of mitochondrial complex III deficiency.
References in periodicals archive ?
Interestingly, the British and Turkish patients with GRACILE syndrome had mitochondrial complex III deficiency, whereas in the Finnish patients, complex III activity was within the normal range.
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