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Article

A novel tRNA(Val) mitochondrial DNA mutation causing MELAS.

Journal of the neurological sciences - 15 Jul 2008

Tanji Kurenai, Kaufmann Petra, Naini Ali B, Lu Jiesheng, Parsons Timothy C, Wang Dong, Willey Joshua Z, Shanske Sara, Hirano Michio, Bonilla Eduardo, Khandji Alexander, Dimauro Salvatore, Rowland Lewis P

Abstract excerpt

Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is the most common mitochondrial disease due to mitochondrial DNA (mtDNA) mutations. At least 15 distinct mtDNA mutations have been associated with MELAS, and about 80% of the cases are caused by the A3243G tRNA(Leu(UUR)) gene mutation. We report here a novel tRNA(Val) mutation in a 37-year-old woman with manifestations of MELAS, and...

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Identifiers

PMID: 18314141
DOI: 10.1016/j.jns.2008.01.016
PMCID: PMC6195319

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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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