Genotype-phenotype correlations in recessive RYR1-related myopathies

BACKGROUND: RYR1 mutations are typically associated with core myopathies and are the most common overall cause of congenital myopathy. Dominant mutations are most often associated with central core disease and malignant hyperthermia, and genotype-phenotype patterns have emerged from the study of the...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Amburgey, Kimberly, Bailey, Angela, Hwang, Jean H, Tarnopolsky, Mark A, Bonnemann, Carsten G, Medne, Livija, Mathews, Katherine D, Collins, James, Daube, Jasper R, Wellman, Gregory P, Callaghan, Brian, Clarke, Nigel F, Dowling, James J
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2013
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3751094/
https://ncbi.nlm.nih.gov/pubmed/23919265
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-117
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados