Cytochrome c oxidase deficiency.
DiMauro S, Lombes A, Nakase H, Mita S, Fabrizi GM, Tritschler HJ, Bonilla E, Miranda AF, DeVivo DC, Schon EA.
DiMauro S, et al.
Pediatr Res. 1990 Nov;28(5):536-41. doi: 10.1203/00006450-199011000-00025.
Pediatr Res. 1990.
PMID: 2175026
Review.
Cytochrome c oxidase (COX) is a complex enzyme composed of 13 subunits, three of which are encoded by the mitochondrial DNA (mtDNA). ...Immunologically detectable protein may be normal (benign myopathy) or variably decreased (fatal myopathy, Leigh syndrome …
Cytochrome c oxidase (COX) is a complex enzyme composed of 13 subunits, three of which are encoded by the mitochondrial DNA (m …