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[A pedigree of Leber's hereditary optic neuropathy with mtDNA 14484 mutation].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2008

Tong Yi, Wang Ying, Jiang Feng, Liu Bin, Zhang Shoukang, Yang Wei

Abstract excerpt

OBJECTIVE: To analyze a pedigree of Leber's hereditary optic neuropathy, and its penetrance, anticipation, and spontaneous eyesight improvement, and its relationship with mitochondrial DNA mutation. METHODS: Eighteen members in the family were undergone routine visual check. Five cases were taken visual evoked potential and visual field examination. DNA sequencing was performed on 6 cases to check the mtDNA...

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PMID: 18841565

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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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