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Alterations of Excitation–Contraction Coupling and Excitation Coupled Ca(2+) Entry in Human Myotubes Carrying CAV3 Mutations Linked to Rippling Muscle Disease
Rippling muscle disease is caused by mutations in the gene encoding caveolin-3 (CAV3), the muscle-specific isoform of the scaffolding protein caveolin, a protein involved in the formation of caveolae. In healthy muscle, caveolin-3 is responsible for the formation of caveolae, which are highly organi...
Autores principales: | Ullrich, Nina D, Fischer, Dirk, Kornblum, Cornelia, Walter, Maggie C, Niggli, Ernst, Zorzato, Francesco, Treves, Susan |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wiley Subscription Services, Inc., A Wiley Company
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3132216/ https://www.ncbi.nlm.nih.gov/pubmed/21294223 http://dx.doi.org/10.1002/humu.21431 |
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