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Article

Pleiotropic Phenotypes Associated With PKP2 Variants

18 Dec 2018

Abstract excerpt

Plakophilin-2 (PKP2) is a component of the desmosome complex and known for its role in cell-cell adhesion. Recently, alterations in the Pkp2 gene have been associated with different inherited cardiac conditions including Arrythmogenic Cardiomyopathy (ACM or ARVC), Brugada syndrome (BrS), and idiopathic ventricular fibrillation to name the most relevant. However, the assessment of pathogenicity regarding the...

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PMID: 30619891
DOI: 10.3389/fcvm.2018.00184

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