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Article

Mitochondrial tRNA variants in 811 Chinese probands with Leber's hereditary optic neuropathy.

Mitochondrion - 1 Jul 2022

Ji Yanchun, Zhang Juanjuan, Liang Min, Meng Feilong, Zhang Minglian, Mo Jun Q, Wang Meng, Guan Min-Xin

Abstract excerpt

Leber's hereditary optic neuropathy (LHON) is the maternal inheritance of eye disorder. LHON-linked mitochondrial DNA (mtDNA) mutations affect the ND1, ND4 or ND6 genes encoding essential subunits of complex I. However, the role of mitochondrial tRNA defects in the pathogenesis of LHON is poorly understood. In this report, Sanger sequence analysis of 22 mitochondrial tRNA genes identified 139 variants in a cohort...

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Identifiers

PMID: 35623556
DOI: 10.1016/j.mito.2022.05.003

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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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