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Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation.

Biochemical and biophysical research communications - 25 Mar 2005

Qu Jia, Li Ronghua, Tong Yi, Hu Yongwu, Zhou Xiangtian, Qian Yaping, Lu Fan, Guan Min-Xin

Abstract excerpt

We report here the characterization of a five-generation large Chinese family with Leber's hereditary optic neuropathy (LHON). Very strikingly, six affected individuals of 38 matrilineal relatives (17 females/21 males) are exclusively males in this Chinese family. These matrilineal relatives in this family exhibited late-onset/progressive visual impairment with a wide range of severity, ranging from blindness to...

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Identifiers

PMID: 15707996
DOI: 10.1016/j.bbrc.2005.01.062

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

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