Condition: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9


rs606231426 in LBHD1;UQCC3 gene and MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 PMID 25008109 2014 A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.