Article
Mitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON-associated G11778A mutation in four Chinese families.
Biochemical and biophysical research communications - 3 Sept 2010
Zhang Juanjuan, Zhou Xiangtian, Zhou Jian, Li Chengwu, Zhao Fuxin, Wang Yan, Meng Yanzi, Wang Jiying, Yuan Meixia, Cai Wanshi, Tong Yi, Sun Yan-Hong, Yang Li, Qu Jia, Guan Min-Xin
Abstract excerpt
We report here the clinical, genetic, and molecular evaluations of four Han Chinese families with Leber's hereditary optic neuropathy. Thirty-one (20 males/11 females) of 83 matrilineal relatives in these families exhibited the variable severity and age-at-onset in visual impairment. The average age-of-onset of vision loss was 22years old. Strikingly, these penetrances of visual impairment in these Chinese...
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