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Article

The m.3244G>A mutation in mtDNA is another cause of progressive external ophthalmoplegia.

Neuromuscular disorders : NMD - 1 Apr 2009

Sotiriou Evangelia, Coku Jorida, Tanji Kurenai, Huang Hua-bin, Hirano Michio, DiMauro Salvatore

Abstract excerpt

We sequenced all mitochondrial tRNA genes in a 61-year-old man with chronic progressive external ophthalmoplegia and mitochondrial myopathy but without mtDNA rearrangements, and identified a heteroplasmic m.3244G>A mutation in the tRNA(Leu(UUR)) gene. This mutation had been previously associated with the MELAS phenotype, but not described in any detail. The mutation load in muscle was 84% and COX-negative fibers...

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Source

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Identifiers

PMID: 19285865
DOI: 10.1016/j.nmd.2009.01.014
PMCID: PMC2699630

Provenance

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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