OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules.

Yu-Wai-Man P, Sitarz KS, Samuels DC, Griffiths PG, Reeve AK, Bindoff LA, Horvath R, Chinnery PF
Hum Mol Genet. 2010 19 (15): 3043-52

PMID: 20484224 · PMCID: PMC2901142 · DOI:10.1093/hmg/ddq209

MeSH Terms (13)

Adult Case-Control Studies Clone Cells Cytochrome-c Oxidase Deficiency DNA, Mitochondrial DNA Copy Number Variations GTP Phosphohydrolases Humans Middle Aged Muscle, Skeletal Muscle Fibers, Skeletal Mutation Phenotype

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