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Article

Mitochondrial tRNAAla 5601C>T variant may affect the clinical expression of the LHON‑related ND4 11778G>A mutation in a family.

Molecular medicine reports - 1 Jan 2020

Ding Yu, Ye Yu-Feng, Li Mei-Ya, Xia Bo-Hou, Leng Jian-Hang

Abstract excerpt

Certain mutations in mitochondrial DNA (mtDNA) are associated with Leber's hereditary optic neuropathy (LHON). In particular, the well‑known NADH dehydrogenase 4 (ND4) m.11778G>A mutation is one of the most common LHON‑associated primary mutations worldwide. However, how specific mtDNA mutations, or variants, affect LHON penetrance is not fully understood. The aim of the current study was to explore the...

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Identifiers

PMID: 31939618
DOI: 10.3892/mmr.2019.10844
PMCID: PMC6896293

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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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