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Article

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.

American journal of human genetics - 1 Jan 2007

Valente Lucia, Tiranti Valeria, Marsano Rene Massimiliano, Malfatti Edoardo, Fernandez-Vizarra Erika, Donnini Claudia, Mereghetti Paolo, De Gioia Luca, Burlina Alberto, Castellan Claudio, Comi Giacomo P, Savasta Salvatore, Ferrero Iliana, Zeviani Massimo

Abstract excerpt

Mitochondrial protein translation is a complex process performed within mitochondria by an apparatus composed of mitochondrial DNA (mtDNA)-encoded RNAs and nuclear DNA-encoded proteins. Although the latter by far outnumber the former, the vast majority of mitochondrial translation defects in humans have been associated with mutations in RNA-encoding mtDNA genes, whereas mutations in protein-encoding nuclear genes...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17160893
DOI: 10.1086/510559
PMCID: PMC1785320

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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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