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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: | , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
The National Academy of Sciences
2001
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| Soggetti: | |
| 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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