A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca(2+) Release

An autosomal dominant protein aggregate myopathy, characterized by high plasma creatine kinase and calsequestrin-1 (CASQ1) accumulation in skeletal muscle, has been recently associated with a missense mutation in CASQ1 gene. The mutation replaces an evolutionarily-conserved aspartic acid with glycin...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: D’Adamo, Maria Cristina, Sforna, Luigi, Visentin, Sergio, Grottesi, Alessandro, Servettini, llenio, Guglielmi, Luca, Macchioni, Lara, Saredi, Simona, Curcio, Maurizio, De Nuccio, Chiara, Hasan, Sonia, Corazzi, Lanfranco, Franciolini, Fabio, Mora, Marina, Catacuzzeno, Luigi, Pessia, Mauro
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2016
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4873205/
https://ncbi.nlm.nih.gov/pubmed/27196359
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0155516
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