mitochondrial complex III deficiency

(redirected from MT-C3D)

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.