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The Pore Region of the Skeletal Muscle Ryanodine Receptor Is a Primary Locus for Excitation-Contraction Uncoupling in Central Core Disease

Human central core disease (CCD) is caused by mutations/deletions in the gene that encodes the skeletal muscle ryanodine receptor (RyR1). Previous studies have shown that CCD mutations in the NH(2)-terminal region of RyR1 lead to the formation of leaky SR Ca(2+) release channels when expressed in my...

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Detalles Bibliográficos
Autores principales: Avila, Guillermo, O'Connell, Kristen M. S., Dirksen, Robert T.
Formato: Texto
Lenguaje:English
Publicado: The Rockefeller University Press 2003
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2217374/
https://www.ncbi.nlm.nih.gov/pubmed/12642598
http://dx.doi.org/10.1085/jgp.200308791

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