Article
Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy.
Biochemical and biophysical research communications - 1 Jul 2005
Qian Yaping, Zhou Xiangtian, Hu Yongwu, Tong Yi, Li Ronghua, Lu Fan, Yang Huanming, Mo Jun Qin, Qu Jia, Guan Min-Xin
Abstract excerpt
We report here the clinical, genetic, and molecular characterization of three Chinese families (WZ4, WZ5, and WZ6) with Leber's hereditary optic neuropathy (LHON). Clinical and genetic evaluations revealed the variable severity and age-of-onset in visual impairment in these families. Penetrances of visual impairment in these Chinese families were 33.3%, 35.7%, and 35.5%, respectively, with an average 34.8%....
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