Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in Phospholamban Gene

Phospholamban is involved in the regulation of the activity and storage of calcium in cardiac muscle. Several mutations have been identified in the PLN gene causing cardiac disease associated with arrhythmogenic and dilated cardiomyopathy. The patho-mechanism underlying PLN mutations is not fully un...

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Detalles Bibliográficos
Autores principales: Zanotti, Simona, Ripolone, Michela, Napoli, Laura, Velardo, Daniele, Salani, Sabrina, Ciscato, Patrizia, Priori, Silvia, Kukavica, Deni, Mazzanti, Andrea, Diamanti, Luca, Vegezzi, Elisa, Moggio, Maurizio, Corti, Stefania, Comi, Giacomo, Sciacco, Monica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10216566/
https://www.ncbi.nlm.nih.gov/pubmed/37408239
http://dx.doi.org/10.3390/cells12101405

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10216566/
https://www.ncbi.nlm.nih.gov/pubmed/37408239
http://dx.doi.org/10.3390/cells12101405

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