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Leber's Hereditary Optic Neuropathy is Associated with Compound Primary Mutations of Mitochondrial ND1 m.3635G > A and ND6 m.14502 T > C.

Ophthalmic genetics - 1 Jan 2015

Jin Xin, Wang Lifeng, Gong Yan, Chen Bing, Wang Yanhua, Chen Tingjun, Wei Shihui

Abstract excerpt

PURPOSE: To describe the clinical and molecular characteristics of a Chinese Leber hereditary optic neuropathy (LHON) pedigree with compound mitochondrial DNA (mtDNA) mutations of m.3635G > A and m.14502T > C. METHODS: A total of 22 individuals (2 affected, 20 unaffected) from a five-generation Chinese family with LHON underwent comprehensive ophthalmic examination, including visual acuity, slit lamp examination,...

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Identifiers

PMID: 24417559
DOI: 10.3109/13816810.2013.871637

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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