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Article

From the phenotype to precision medicine: an update on the cardiomyopathies diagnostic workflow.

Journal of cardiovascular medicine (Hagerstown, Md.) - 1 May 2023

Autore Camillo, Bariani Riccardo, Bauce Barbara, Biagini Elena, Canepa Marco, Castelletti Silvia, Crotti Lia, Limongelli Giuseppe, Merlo Marco, Monda Emanuele, Pio Loco Detto Gava Carola, Parisi Vanda, Tini Giacomo, Imazio Massimo

Abstract excerpt

Cardiomyopathies are disease of the cardiac muscle largely due to genetic alterations of proteins with 'structural' or 'functional' roles within the cardiomyocyte, going from the regulation of contraction-relaxation, metabolic and energetic processes to ionic fluxes. Modifications occurring to these proteins are responsible, in the vast majority of cases, for the phenotypic manifestations of the disease,...

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PMID: 37186568
DOI: 10.2459/JCM.0000000000001424

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