Pathogenic variants in MRPL44 causes infantile cardiomyopathy due to a mitochondrial translation defect

Cardiac dysfunction is a common phenotypic manifestation of primary mitochondrial disease with multiple nuclear and mitochondrial DNA pathogenic variants as a cause, including disorders of mitochondrial translation. To date, five patients have been described with pathogenic variants in MRPL44, encod...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Mol Genet Metab
Main Authors: Friederich, Marisa W., Geddes, Gabrielle C., Wortmann, Saskia B., Punnoose, Ann, Wartchow, Eric, Knight, Kaz M., Prokisch, Holger, Creadon-Swindell, Geralyn, Mayr, Johannes A., Van Hove, Johan L.K.
Formato: Artigo
Idioma:Inglês
Publicado em: 2021
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8289749/
https://ncbi.nlm.nih.gov/pubmed/34140213
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2021.06.001
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados