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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4873205/
https://www.ncbi.nlm.nih.gov/pubmed/27196359
http://dx.doi.org/10.1371/journal.pone.0155516

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4873205/
https://www.ncbi.nlm.nih.gov/pubmed/27196359
http://dx.doi.org/10.1371/journal.pone.0155516

Ejemplares similares