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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Bibliographic Details
Main Authors: Gehmlich, K, Asimaki, A, Cahill, T, Ehler, E, Syrris, P, Zachara, E, Re, F, Avella, A, Monserrat, L, Saffitz, J, McKenna, W
Format: Journal article
Language:English
Published: 2010