Article
Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation.
American journal of human genetics - 1 Dec 2008
Ji Yanli, Zhang A-Mei, Jia Xiaoyun, Zhang Ya-Ping, Xiao Xueshan, Li Shiqiang, Guo Xiangming, Bandelt Hans-Jürgen, Zhang Qingjiong, Yao Yong-Gang
Abstract excerpt
Leber hereditary optic neuropathy (LHON) is the most extensively studied mitochondrial disease, with the majority of the cases being caused by one of three primary mitochondrial DNA (mtDNA) mutations. Incomplete disease penetrance and gender bias are two features of LHON and indicate involvement of additional genetic or environmental factors in the pathogenesis of the disorder. Haplogroups J, K, and H have been...
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