Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients

Central Core Disease (CCD) is an inherited neuromuscular disorder characterized by the presence of cores in muscle biopsy. CCD is caused by mutations in the RYR1 gene. This gene encodes the ryanodine receptor 1, which is an intracellular calcium release channel from the sarcoplasmic reticulum to the...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Acta Myol
Main Authors: Galleni Leão, Leonardo, Santos Souza, Lucas, Nogueira, Letícia, Pavanello, Rita de Cássia Mingroni, Gurgel-Giannetti, Juliana, Reed, Umbertina C, Oliveira, Acary S.B., Cuperman, Thais, Cotta, Ana, FPaim, Julia, Zatz, Mayana, Vainzof, Mariz
Formato: Artigo
Idioma:Inglês
Publicado em: Pacini Editore Srl 2020
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7783440/
https://ncbi.nlm.nih.gov/pubmed/33458582
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.36185/2532-1900-030
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados