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Article

Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.

European journal of human genetics : EJHG - 1 Mar 2021

Barcia Giulia, Rio Marlène, Assouline Zahra, Zangarelli Coralie, Roux Charles-Joris, de Lonlay Pascale, Steffann Julie, Desguerre Isabelle, Munnich Arnold, Bonnefont Jean-Paul, Boddaert Nathalie, Rötig Agnès, Metodiev Metodi D, Ruzzenente Benedetta

Abstract excerpt

Mitochondrial translation is essential for the biogenesis of the mitochondrial oxidative phosphorylation system (OXPHOS) that synthesizes the bulk of ATP for the cell. Hypomorphic and loss-of-function variants in either mitochondrial DNA or in nuclear genes that encode mitochondrial translation factors can result in impaired OXPHOS biogenesis and mitochondrial diseases with variable clinical presentations....

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Identifiers

PMID: 33168986
DOI: 10.1038/s41431-020-00757-x
PMCID: PMC7940479

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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