Article
Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A.
Mutation research - 25 Aug 2008
Wang Hua-Wei, Jia Xiaoyun, Ji Yanli, Kong Qing-Peng, Zhang Qingjiong, Yao Yong-Gang, Zhang Ya-Ping
Abstract excerpt
The penetrance of Leber's hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex. Matrilineal and nuclear genetic background, as well as environmental factors, have been reported to be involved in different affected pedigrees. Here we describe two large Chinese families that show a striking difference in the penetrance of LHON, in which 53.3% and 15.0% of...
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