Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy

Recessively inherited variants in AARS2 (NM_020745.2) encoding mitochondrial alanyl-tRNA synthetase (mt-AlaRS) were first described in patients presenting with fatal infantile cardiomyopathy and multiple oxidative phosphorylation defects. To date, all described patients with AARS2-related fatal infa...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Sommerville, Ewen W, Zhou, Xiao-Long, Oláhová, Monika, Jenkins, Janda, Euro, Liliya, Konovalova, Svetlana, Hilander, Taru, Pyle, Angela, He, Langping, Habeebu, Sultan, Saunders, Carol, Kelsey, Anna, Morris, Andrew A M, McFarland, Robert, Suomalainen, Anu, Gorman, Gráinne S, Wang, En-Duo, Thiffault, Isabelle, Tyynismaa, Henna, Taylor, Robert W
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2019
Assuntos:
General Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6321959/
https://ncbi.nlm.nih.gov/pubmed/30285085
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy294
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados