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Article

Is mitochondrial tRNA(phe) variant m.593T>C a synergistically pathogenic mutation in Chinese LHON families with m.11778G>A?

PloS one - 1 Jan 2011

Zhang A-Mei, Bandelt Hans-Jürgen, Jia Xiaoyun, Zhang Wen, Li Shiqiang, Yu Dandan, Wang Dong, Zhuang Xin-Ying, Zhang Qingjiong, Yao Yong-Gang

Abstract excerpt

Mitochondrial transfer RNA (mt-tRNA) mutations have been reported to be associated with a variety of diseases. In a previous paper that studied the mtDNA background effect on clinical expression of Leber's hereditary optic neuropathy (LHON) in 182 Chinese families with m.11778G>A, we found a strikingly high frequency (7/182) of m.593T>C in the mitochondrially encoded tRNA phenylalanine (MT-TF) gene in unrelated...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Optic Atrophy, Hereditary, Leber

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Identifiers

PMID: 22039503
DOI: 10.1371/journal.pone.0026511
PMCID: PMC3198432

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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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Is mitochondrial tRNA(phe) variant m.593T>C a synergistically pathogenic mutation in Chinese LHON families with m.11778G>A?PMID 22039503Read ↗

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