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Article

A new mtDNA-tRNA(Glu) mutation (14728T>C) presenting a late-onset mitochondrial encephalomyopathy.

Mitochondrion - 1 Dec 2007

Nogueira Célia, Nunes João, Evangelista Teresinha, Fattori Fabiana, Tessa Alessandra, Pereira Cristina, Santorelli Filippo M, Vilarinho Laura

Abstract excerpt

We identified a new mutation in the mtDNA-encoded transfer RNA glutamate gene (tRNAGlu) in a patient presenting with late-onset myopathy. The mutation was nearly homoplasmic in muscle but hardly detectable in peripheral blood. Adding to the list of disease-related mtDNA variants, our findings propose to consider screening of tRNAGlu in cases of late-onset neuromuscular disorders.

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Identifiers

PMID: 17897888
DOI: 10.1016/j.mito.2007.08.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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