Article
Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in Phospholamban Gene.
Cells - 17 May 2023
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
Abstract excerpt
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 understood and a specific therapy is not yet available. PLN mutated patients have been deeply investigated in cardiac...
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