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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7697544/
https://www.ncbi.nlm.nih.gov/pubmed/33207704
http://dx.doi.org/10.3390/diagnostics10110955

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7697544/
https://www.ncbi.nlm.nih.gov/pubmed/33207704
http://dx.doi.org/10.3390/diagnostics10110955

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