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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...
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. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
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 |
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