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...

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Detalles Bibliográficos
Autores principales: Lawal, Tokunbor A., Todd, Joshua J., Witherspoon, Jessica W., Bönnemann, Carsten G., Dowling, James J., Hamilton, Susan L., Meilleur, Katherine G., Dirksen, Robert T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667763/
https://www.ncbi.nlm.nih.gov/pubmed/33190635
http://dx.doi.org/10.1186/s13395-020-00243-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667763/
https://www.ncbi.nlm.nih.gov/pubmed/33190635
http://dx.doi.org/10.1186/s13395-020-00243-4

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