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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

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