The altered activity of complex III may contribute to the high penetrance of Leber's hereditary optic neuropathy in a Chinese family carrying the ND4 G11778A mutation - Qian, Yaping; Zhou, Xiangtian; Liang, Min; Qu, Jia; Guan, Min-Xin (Mitochondrion, 2011)
Keywords: adenosine triphosphate; Adenosine Triphosphate - metabolism; Adolescent; Adult; Aged; Asian Continental Ancestry Group; Cells, Cultured; Electron Transport Complex III - metabolism; energy metabolism; Family Health; genes; haplotypes; Humans; Lymphocytes - metabolism; Middle Aged; mitochondrial DNA; mutants; mutation; Mutation, Missense; NADH Dehydrogenase - genetics; Optic Atrophy, Hereditary, Leber - genetics; pathophysiology; Penetrance; peripheral nervous system diseases; reactive oxygen species; Young Adult