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Article

The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype.

Neuromuscular disorders : NMD - 1 Jun 2010

Alston Charlotte L, Bender Andreas, Hargreaves Iain P, Mundy Helen, Deshpande Charulata, Klopstock Thomas, McFarland Robert, Horvath Rita, Taylor Robert W

Abstract excerpt

The m.3243A>G point mutation in the mitochondrial tRNA(Leu(UUR)) (MTTL1) gene is a common cause of mitochondrial DNA disease and is associated with a variety of clinical presentations. A different mutation occurring at the same site - an m.3243A>T transversion - is less prevalent, but has previously been observed in two patients with encephalopathy and lactic acidosis. We report the investigations of a further...

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Identifiers

PMID: 20471262
DOI: 10.1016/j.nmd.2010.04.003

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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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