Novel missense mutations in exon 15 of desmoglein-2: Role of the intracellular cadherin segment in arrhythmogenic right ventricular cardiomyopathy?

BACKGROUND: The diagnosis of arrhythmogenic right ventricular cardiomyopathy can be challenging. Disease-causing mutations in desmosomal genes have been identified. A novel diagnostic feature, loss of immunoreactivity for plakoglobin from the intercalated disks, recently was proposed. OBJECTIVE: The...

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Autori principali: Gehmlich, Katja, Asimaki, Angeliki, Cahill, Thomas J., Ehler, Elisabeth, Syrris, Petros, Zachara, Elisabetta, Re, Federica, Avella, Andrea, Monserrat, Lorenzo, Saffitz, Jeffrey E., McKenna, William J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2010
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Focus issue: Sudden cardiac arrest
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2994644/
https://ncbi.nlm.nih.gov/pubmed/20708101
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.hrthm.2010.08.007
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