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Article

A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy.

American journal of medical genetics. Part A - 30 Aug 2005

Seneca Sara, Goemans Nathalie, Van Coster Rudy, Givron Patrice, Reybrouck Tony, Sciot Raf, Meulemans Ann, Smet Joel, Van Hove Johan L K

Abstract excerpt

Several mutations in mitochondrial transfer RNA (tRNA) genes can cause mitochondrial myopathy. We describe a young girl who presented with pronounced exercise intolerance. The anaerobic threshold and the maximal oxygen consumption were decreased. She had decreased complex I and IV enzyme activity and ragged red fibers on muscle biopsy. An A to G transition at nucleotide position 7526 in tRNA Aspartate (tRNA(Asp))...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16059939
DOI: 10.1002/ajmg.a.30854

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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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