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

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

Phospholamban is involved in the regulation of the activity and storage of calcium in cardiac muscle. Several mutations have been identified in the <i>PLN</i> gene causing cardiac disease associated with arrhythmogenic and dilated cardiomyopathy. The patho-mechanism underlying <i>P...

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Bibliographic Details
Main Authors: Simona Zanotti, Michela Ripolone, Laura Napoli, Daniele Velardo, Sabrina Salani, Patrizia Ciscato, Silvia Priori, Deni Kukavica, Andrea Mazzanti, Luca Diamanti, Elisa Vegezzi, Maurizio Moggio, Stefania Corti, Giacomo Comi, Monica Sciacco
Format: Article
Language:English
Published: MDPI AG 2023-05-01
Series:Cells
Subjects:
phospholamban
Arg14del
skeletal muscle
aggresomes
Online Access:https://www.mdpi.com/2073-4409/12/10/1405

Internet

https://www.mdpi.com/2073-4409/12/10/1405

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