Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature

The RYR1 gene, which encodes the sarcoplasmic reticulum calcium release channel or type 1 ryanodine receptor (RyR1) of skeletal muscle, was sequenced in 1988 and RYR1 variations that impair calcium homeostasis and increase susceptibility to malignant hyperthermia were first identified in 1991. Since...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Skelet Muscle
Auteurs principaux: Lawal, Tokunbor A., Todd, Joshua J., Witherspoon, Jessica W., Bönnemann, Carsten G., Dowling, James J., Hamilton, Susan L., Meilleur, Katherine G., Dirksen, Robert T.
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2020
Sujets:
Review
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7667763/
https://ncbi.nlm.nih.gov/pubmed/33190635
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13395-020-00243-4
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires