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Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene.

Mitochondrion - 1 Jul 2014

Debray François-Guillaume, Seneca Sara, Gonce Michel, Vancampenhaut Kim, Bianchi Elettra, Boemer François, Weekers Laurent, Smet Joél, Van Coster Rudy

Abstract excerpt

Cytochrome c oxidase (COX) deficiency is one of the most common respiratory chain deficiencies. A woman was presented at the age of 18y with acute loss of consciousness, non-convulsive status epilepticus, slow neurological deterioration, transient cortical blindness, exercise intolerance, muscle weakness, hearing loss, cataract and cognitive decline. Muscle biopsy revealed ragged-red fibers, COX negative fibers...

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Identifiers

PMID: 24956508
DOI: 10.1016/j.mito.2014.06.003

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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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