Article
The mitochondrial tRNA(Glu) A14693G mutation may influence the phenotypic manifestation of ND1 G3460A mutation in a Chinese family with Leber's hereditary optic neuropathy.
Biochemical and biophysical research communications - 1 Jun 2007
Tong Yi, Mao Yijian, Zhou Xiangtian, Yang Li, Zhang Juanjuan, Cai Wanshi, Zhao Fuxing, Wang Xinjian, Lu Fan, Qu Jia, Guan Min-Xin
Abstract excerpt
We report here the clinical, genetic, and molecular characterization of one Han Chinese family with maternally transmitted Leber's hereditary optic neuropathy (LHON). Three of seven matrilineal relatives in this family exhibited the variable degree of central vision loss at the age of 12, 14, and 16 years old, respectively. Sequence analysis of the complete mitochondrial DNA in this pedigree revealed the presence...
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