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Article

Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation.

Biochemical and biophysical research communications - 5 Jun 2009

Liang Min, Guan Minqiang, Zhao Fuxing, Zhou Xiangtian, Yuan Meixia, Tong Yi, Yang Li, Wei Qi-Ping, Sun Yan-Hong, Lu Fan, Qu Jia, Guan Min-Xin

Abstract excerpt

We report here the clinical, genetic and molecular characterization of four Chinese families with Leber's hereditary optic neuropathy (LHON). There were variable severity and age-of-onset in visual impairment among these families. Strikingly, there were extremely low penetrances of visual impairment in these Chinese families. Sequence analysis of complete mitochondrial genomes in these pedigrees showed the...

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Identifiers

PMID: 19324017
DOI: 10.1016/j.bbrc.2009.03.097
PMCID: PMC2905379

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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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