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

Mono-allelic dominant mutations in the desmoplakin gene (DSP) have been linked to known cardiac disorders, such as arrhythmogenic right ventricular cardiomyopathy and dilated cardiomyopathy. During the course of DSP cardiomyopathy, episodes of acute myocardial injury may occur. While their mechanism...

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Detalhes bibliográficos
Publicado no:Diagnostics (Basel)
Main Authors: Chmielewski, Przemysław, Truszkowska, Grażyna T., Kukla, Piotr, Zakrzewska-Koperska, Joanna, Śpiewak, Mateusz, Stępień-Wojno, Małgorzata, Bilińska, Maria, Lutyńska, Anna, Płoski, Rafał, Bilińska, Zofia T.
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7697544/
https://ncbi.nlm.nih.gov/pubmed/33207704
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/diagnostics10110955
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