Identification of an ND4 Mutation in Leber Hereditary Optic Neuropathy

Lu, Q; Guo, Y; Yi, JH; Deng, X; Yang, ZJ; Yuan, XH; Deng, H

Deng, H (reprint author), Cent S Univ, Xiangya Hosp 3, Ctr Expt Med, Changsha, Hunan, Peoples R China.; Deng, H (reprint author), Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha, Hunan, Peoples R China.

OPTOMETRY AND VISION SCIENCE, 2017; 94 (12): 1090

Abstract

SIGNIFICANCE We identified a missense mutation, m.11778G>A (p.R340H), in the mitochondrially encoded NADH dehydrogenase 4 gene (ND4) in eight patie......

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