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Article

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency.

The New England journal of medicine - 11 Nov 2004

Coenen Marieke J H, Antonicka Hana, Ugalde Cristina, Sasarman Florin, Rossi Rainer, Heister J G A M Angelien, Newbold Robert F, Trijbels Frans J M F, van den Heuvel Lambert P, Shoubridge Eric A, Smeitink Jan A M

Abstract excerpt

Although most components of the mitochondrial translation apparatus are encoded by nuclear genes, all known molecular defects associated with impaired mitochondrial translation are due to mutations in mitochondrial DNA. We investigated two siblings with a severe defect in mitochondrial translatio...

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Identifiers

PMID: 15537906
DOI: 10.1056/NEJMoa041878

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-15537906-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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