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概要

Leber's Hereditary Optic Neuropathy Associated with the m.10197G>A Mutation

Tzu-Lun Huang, Jia-Kang Wang, Cheng-Yoong Pang, Rong-Kung Tsai

Leber hereditary optic neuropathy (LHON) is an optic neuropathy caused by homoplasmic or heteroplasmic mtDNA mutations, which predominantly cause damage to the retinal ganglion cells (RGCs). The mtND3*10197A (m.10197G>A) mutation has been identified as the novel causative gene in Chinese patients with LHON and dystonia [1]. The m.10197G>A mutation also has been detected in patients with bilateral basal ganglia lesions and Leigh syndrome [2-4]. This mutation substitutes a threonine for an alanine at codon 47 of MTND3.