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Article

Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.

Journal of medical genetics - 1 Oct 2011

Uusimaa J, Jungbluth H, Fratter C, Crisponi G, Feng L, Zeviani M, Hughes I, Treacy E P, Birks J, Brown G K, Sewry C A, McDermott M, Muntoni F, Poulton J

Abstract excerpt

OBJECTIVES: Homoplasmic maternally inherited, m.14674T>C or m. 14674T>G mt-tRNA(Glu) mutations have recently been identified in reversible infantile cytochrome c oxidase deficiency (or 'benign COX deficiency'). This study sought other genetic defects that may give rise to similar presentations. PATIENTS: Eight patients from seven families with clinicopathological features of infantile reversible cytochrome c...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electron Transport Complex IV

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Source

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Identifiers

PMID: 21931168
DOI: 10.1136/jmg.2011.089995
PMCID: PMC4562368

Genes

TRMU

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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