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Article

A novel heteroplasmic tRNA Ser(UCN) mtDNA point mutation associated with progressive ophthalmoplegia and dysphagia.

Diagnostic molecular pathology : the American journal of surgical pathology, part B - 1 Mar 2010

Souilem Sihem, Kefi Mounir, Mancuso Michelangelo, Nesti Claudia, Hentati Faycal, Amouri Rim

Abstract excerpt

We report a novel heteroplasmic mitochondrial DNA mutation in the tRNA gene at nucleotide 7458 (m.7458G>A) in a 26-year-old patient affected with sporadic progressive external ophthalmoplegia associated with dysphagia. Muscle biopsy showed a strong succinate dehydrogenase staining, ragged red fibers, and 15% of cytochrome c oxidase-negative fibers. Activities of mitochondrial respiratory chain complexes I+III and...

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Source

Identifiers

PMID: 20186009
DOI: 10.1097/PDM.0b013e3181b00f02

Genes

UCN

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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