Functional Effects of Central Core Disease Mutations in the Cytoplasmic Region of the Skeletal Muscle Ryanodine Receptor

Central core disease (CCD) is a human myopathy that involves a dysregulation in muscle Ca(2)+ homeostasis caused by mutations in the gene encoding the skeletal muscle ryanodine receptor (RyR1), the protein that comprises the calcium release channel of the SR. Although genetic studies have clearly de...

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Detalles Bibliográficos
Autores principales: Avila, Guillermo, Dirksen, Robert T.
Formato: Texto
Lenguaje:English
Publicado: The Rockefeller University Press 2001
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2229502/
https://www.ncbi.nlm.nih.gov/pubmed/11524458

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2229502/
https://www.ncbi.nlm.nih.gov/pubmed/11524458

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