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Article

[Penetrance of Leber hereditary optic neuropathy in Chinese individuals with mitochondrial DNA 11778 mutation].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2001

Zhang Q, Guo X, Jia X, Xiao X, Guo L, Li S

Abstract excerpt

OBJECTIVE: To analyze the penetrance of Leber hereditary optic neuropathy (LHON) in families with homoplasmic mitochondrial DNA (mtDNA) 11778 mutation. METHODS: Maternal relatives of 16 families were analyzed based on ocular phenotype and primary mtDNA mutation analysis. RESULTS: One hundred and thirty individuals from the 16 families harbored the 11778 mutation. Of the 130 individuals, 65 were male and 65...

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Identifiers

PMID: 11774211

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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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