Leber’s hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation

We report here the clinical, genetic and molecular characterization of four Chinese families with Leber’s hereditary optic neuropathy (LHON). There were variable severity and age-of-onset in visual impairment among these families. Strikingly, there were extremely low penetrances of visual impairment...

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Hlavní autoři: Liang, Min, Guan, Minqiang, Zhao, Fuxing, Zhou, Xiangtian, Yuan, Meixia, Tong, Yi, Yang, Li, Wei, Qi-Ping, Sun, Yan-Hong, Lu, Fan, Qu, Jia, Guan, Min-Xin
Médium: Artigo
Jazyk:Inglês
Vydáno: 2009
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2905379/
https://ncbi.nlm.nih.gov/pubmed/19324017
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbrc.2009.03.097
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