Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia

Background: Central core disease and malignant hyperthermia are human disorders of skeletal muscle resulting from aberrant Ca(2+) handling. Most malignant hyperthermia and central core disease cases are associated with amino acid changes in the type 1 ryanodine receptor (RyR1), the skeletal muscle C...

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Detalles Bibliográficos
Autores principales: Parker, Remai, Schiemann, Anja H., Langton, Elaine, Bulger, Terasa, Pollock, Neil, Bjorksten, Andrew, Gillies, Robyn, Hutchinson, David, Roxburgh, Richard, Stowell, Kathryn M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2017
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5467713/
https://www.ncbi.nlm.nih.gov/pubmed/28527222
http://dx.doi.org/10.3233/JND-170210

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5467713/
https://www.ncbi.nlm.nih.gov/pubmed/28527222
http://dx.doi.org/10.3233/JND-170210

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