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Review of RyR1 pathway and associated pathomechanisms

Ryanodine receptor isoform-1 (RyR1) is a major calcium channel in skeletal muscle important for excitation-contraction coupling. Mutations in the RYR1 gene yield RyR1 protein dysfunction that manifests clinically as RYR1-related congenital myopathies (RYR1-RM) and/or malignant hyperthermia susceptib...

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Detalles Bibliográficos
Autores principales:	Witherspoon, Jessica W., Meilleur, Katherine G.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2016
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5114830/ https://www.ncbi.nlm.nih.gov/pubmed/27855725 http://dx.doi.org/10.1186/s40478-016-0392-6

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