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

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 fact...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2020
Assuntos:
Brief Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7940479/
https://ncbi.nlm.nih.gov/pubmed/33168986
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-00757-x
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