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Article

Reversible infantile respiratory chain deficiency: a clinical and molecular study.

Annals of neurology - 1 Dec 2010

Mimaki Masakazu, Hatakeyama Hideyuki, Komaki Hirofumi, Yokoyama Mina, Arai Hidee, Kirino Yohei, Suzuki Tsutomu, Nishino Ichizo, Nonaka Ikuya, Goto Yu-ichi

Abstract excerpt

OBJECTIVE: To characterize the clinical features and clarify the pathogenicity of "benign cytochrome c oxidase deficiency myopathy." METHODS: The study included 8 patients with the phenotype of this disease. Six patients underwent muscle biopsies and all the 8 underwent mitochondrial DNA analyses. To confirm the pathogenicity of the detected mitochondrial DNA mutation, we performed northern blot analysis, using...

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Identifiers

PMID: 21194154
DOI: 10.1002/ana.22111

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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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