Ca(2+) dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods

Ryr1(I4895T/wt) (IT/+) mice express a knockin mutation corresponding to the human I4898T EC-uncoupling mutation in the type 1 ryanodine receptor/Ca(2+) release channel (RyR1), which causes a severe form of central core disease (CCD). IT/+ mice exhibit a slowly progressive congenital myopathy, with n...

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Autors principals: Zvaritch, Elena, Kraeva, Natasha, Bombardier, Eric, McCloy, Robert A., Depreux, Frederic, Holmyard, Douglas, Kraev, Alexander, Seidman, Christine E., Seidman, J. G., Tupling, A. Russell, MacLennan, David H.
Format: Artigo
Idioma:Inglês
Publicat: National Academy of Sciences 2009
Matèries:
Biological Sciences
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2788482/
https://ncbi.nlm.nih.gov/pubmed/19959667
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0912126106
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