Article
Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T>C (MT-ND6) mutation in Chinese families.
Mitochondrion - 1 Nov 2013
Zhang Juanjuan, Zhao Fuxin, Fu Qun, Liang Min, Tong Yi, Liu Xiaoling, Lin Bei, Mi Hui, Zhang Minglian, Wei Qi-Ping, Xue Ling, Jiang Pingping, Zhou Xiangtian, Mo Jun Qin, Huang Taosheng, Qu Jia, Guan Min-Xin
Abstract excerpt
Mitochondrial m.14484T>C (MT-ND6) mutation has been associated with Leber's hereditary optic neuropathy. Previous investigations revealed that the m.14484T>C mutation is a primary factor underlying the development of optic neuropathy but is not sufficient to produce a clinical phenotype. However, mitochondrial haplogroups have been proposed to modulate the phenotypic manifestation of the m.14484T>C mutation....
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