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 ?
Zeviani, "Nuclear gene mutations as the cause of mitochondrial complex III deficiency," Frontiers in Genetics, vol.
Lebigot et al., "UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemia," Journal of Human Genetics, vol.
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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