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Article

Mitochondrial encephalomyopathy due to a novel mutation in the tRNAGlu of mitochondrial DNA.

Journal of child neurology - 1 Jul 2007

Pancrudo Jacklyn, Shanske Sara, Bonilla Eduardo, Daras Mariza, Akman Hasan O, Krishna Sindu, Malkin Elfrida, DiMauro Salvatore

Abstract excerpt

A 14-year-old boy had exercise intolerance, weakness, ataxia, and lactic acidosis. Because his muscle biopsy showed a mosaic pattern of fibers staining intensely with the succinate dehydrogenase reaction but not at all with the cytochrome c oxidase reaction, we sequenced his mitochondrial DNA and found a novel mutation (C14680A) in the gene for tRNAGlu. The mutation was present in accessible tissues from the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA, Mitochondrial

Share to Electron Transport Complex IV

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Share to Muscle, Skeletal

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Source

Identifiers

PMID: 17715279
DOI: 10.1177/0883073807304199

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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