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Clinical and Molecular Data Define a Diagnosis of Arrhythmogenic Cardiomyopathy in a Carrier of a Brugada-Syndrome-Associated PKP2 Mutation
Plakophilin-2 (PKP2) is the most frequently mutated desmosomal gene in arrhythmogenic cardiomyopathy (ACM), a disease characterized by structural and electrical alterations predominantly affecting the right ventricular myocardium. Notably, ACM cases without overt structural alterations are frequentl...
Autores principales: | Persampieri, Simone, Pilato, Chiara Assunta, Sommariva, Elena, Maione, Angela Serena, Stadiotti, Ilaria, Ranalletta, Antonio, Torchio, Margherita, Dello Russo, Antonio, Basso, Cristina, Pompilio, Giulio, Tondo, Claudio, Casella, Michela |
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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/PMC7288341/ https://www.ncbi.nlm.nih.gov/pubmed/32443836 http://dx.doi.org/10.3390/genes11050571 |
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