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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Detalhes bibliográficos
Publicado no:J Neuromuscul Dis
Main Authors: Parker, Remai, Schiemann, Anja H., Langton, Elaine, Bulger, Terasa, Pollock, Neil, Bjorksten, Andrew, Gillies, Robyn, Hutchinson, David, Roxburgh, Richard, Stowell, Kathryn M.
Formato: Artigo
Idioma:Inglês
Publicado em: IOS Press 2017
Assuntos:
Research Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5467713/
https://ncbi.nlm.nih.gov/pubmed/28527222
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JND-170210
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