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Article

Mitochondrial myopathy and respiratory failure associated with a new mutation in the mitochondrial transfer ribonucleic acid glutamic acid gene.

Journal of child neurology - 1 Apr 2003

Bruno Claudio, Sacco Oliviero, Santorelli Filippo M, Assereto Stefania, Tonoli Emmanuel, Bado Massimo, Rossi Giovanni A, Minetti Carlo

Abstract excerpt

We report a novel T14687C mutation in the mitochondrial transfer ribonucleic acid glutamic acid gene in a 16-year-old boy with myopathy and lactic acidosis, retinopathy, and progressive respiratory failure leading to death. A muscle biopsy showed cytochrome c oxidase-negative ragged-red fibers, and biochemical analysis of the respiratory chain enzymes in muscle homogenate revealed complex I and complex IV...

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Source

Identifiers

PMID: 12760436
DOI: 10.1177/08830738030180040401

Provenance

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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