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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...
Autores principales: | , , |
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Formato: | Texto |
Lenguaje: | English |
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The Rockefeller University Press
2003
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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 |