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The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss.

Biochemical and biophysical research communications - 15 Jun 2007

Wei Qi-Ping, Zhou Xiangtian, Yang Li, Sun Yan-Hong, Zhou Jian, Li Guang, Jiang Robert, Lu Fan, Qu Jia, Guan Min-Xin

Abstract excerpt

We report here the clinical, genetic and molecular characterization of one three-generation Han Chinese family with Leber's hereditary optic neuropathy (LHON) and hearing loss. Four of 14 matrilineal relatives exhibited the moderate central vision loss at the average age of 12.5 years. Of these, one subject exhibited both LHON and mild hearing impairment. Sequence analysis of the complete mitochondrial genomes in...

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PMID: 17452034
DOI: 10.1016/j.bbrc.2007.04.025

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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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