Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.

doi:10.1093/brain/awp221

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Article

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.

Brain : a journal of neurology - 1 Nov 2009

Horvath Rita, Kemp John P, Tuppen Helen A L, Hudson Gavin, Oldfors Anders, Marie Suely K N, Moslemi Ali-Reza, Servidei Serenella, Holme Elisabeth, Shanske Sara, Kollberg Gittan, Jayakar Parul, Pyle Angela, Marks Harold M, Holinski-Feder Elke, Scavina Mena, Walter Maggie C, Coku Jorida, Günther-Scholz Andrea, Smith Paul M, McFarland Robert, Chrzanowska-Lightowlers Zofia M A, Lightowlers Robert N, Hirano Michio, Lochmüller Hanns, Taylor Robert W, Chinnery Patrick F, Tulinius Mar, DiMauro Salvatore

Abstract excerpt

Childhood-onset mitochondrial encephalomyopathies are usually severe, relentlessly progressive conditions that have a fatal outcome. However, a puzzling infantile disorder, long known as 'benign cytochrome c oxidase deficiency myopathy' is an exception because it shows spontaneous recovery if inf...

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PMID: 19720722
DOI: 10.1093/brain/awp221
PMCID: PMC2768660

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19720722-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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