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Pubmed ID :29116953
Publication Date : //

Identification of an ND4 Mutation in Leber Hereditary Optic Neuropathy.


We identified a missense mutation, m.11778G>A (p.R340H), in the mitochondrially encoded NADH dehydrogenase 4 gene (ND4) in eight patients and three asymptomatic carriers, even though the incidence of this has been considered low in Chinese population. These results have implications for the families' genetic counseling and clinical management.

Authors : Lu Qian , Guo Yi , Yi Junhui , Deng Xiong , Yang Zhijian , Yuan Xiuhong , Deng Hao ,

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