A Novel <i>DSP</i> Truncating Variant in a Family with Episodic Myocardial Injury in the Course of Arrhythmogenic Cardiomyopathy—A Possible Role of a Low Penetrance <i>NLRP3</i> Variant

A Novel <i>DSP</i> Truncating Variant in a Family with Episodic Myocardial Injury in the Course of Arrhythmogenic Cardiomyopathy—A Possible Role of a Low Penetrance <i>NLRP3</i> Variant

Mono-allelic dominant mutations in the desmoplakin gene (<i>DSP</i>) have been linked to known cardiac disorders, such as arrhythmogenic right ventricular cardiomyopathy and dilated cardiomyopathy. During the course of <i>DSP</i> cardiomyopathy, episodes of acute myocardial i...

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Bibliographic Details
Main Authors: Przemysław Chmielewski, Grażyna T. Truszkowska, Piotr Kukla, Joanna Zakrzewska-Koperska, Mateusz Śpiewak, Małgorzata Stępień-Wojno, Maria Bilińska, Anna Lutyńska, Rafał Płoski, Zofia T. Bilińska
Format: Article
Language:English
Published: MDPI AG 2020-11-01
Series:Diagnostics
Subjects:
arrhythmogenic cardiomyopathy
desmoplakin
<i>DSP</i> gene
<i>NLRP3</i> gene
Online Access:https://www.mdpi.com/2075-4418/10/11/955

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https://www.mdpi.com/2075-4418/10/11/955

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