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Excitation–contraction uncoupling by a human central core disease mutation in the ryanodine receptor

Central core disease (CCD) is a human congenital myopathy characterized by fetal hypotonia and proximal muscle weakness that is linked to mutations in the gene encoding the type-1 ryanodine receptor (RyR1). CCD is thought to arise from Ca(2+)-induced damage stemming from mutant RyR1 proteins forming...

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Autori principali: Avila, Guillermo, O'Brien, Jennifer J., Dirksen, Robert T.
Natura: Artigo
Lingua:Inglês
Pubblicazione: The National Academy of Sciences 2001
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC31205/
https://ncbi.nlm.nih.gov/pubmed/11274444
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.071048198
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