Clinical and Genetic Characterization of Patients with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Caused by a Plakophilin-2 Splice Mutation

Jasper J. van der Smagt,Paul A. van der Zwaag,J. Peter van Tintelen,Moniek G.P.J. Cox,Arthur A.M. Wilde,Irene M. van Langen,Amber Ummels,F. A. M. Hennekam,Dennis Dooijes,Frans Gerbens,Hennie Bikker,Richard N.W. Hauer,Pieter A. Doevendans

Clinical and Genetic Characterization of Patients with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Caused by a Plakophilin-2 Splice Mutation

2012

Jasper J. van der Smagt
Paul A. van der Zwaag
J. Peter van Tintelen
Moniek G.P.J. Cox
Arthur A.M. Wilde
Irene M. van Langen
Amber Ummels
F. A. M. Hennekam
Dennis Dooijes
Frans Gerbens
Hennie Bikker
Richard N.W. Hauer
Pieter A. Doevendans

Objectives: Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is characterized by fibrofatty replacement of cardiomyocytes. In around 50% of inde

Keywords:

Internal medicine
Dysplasia
Disease
Cardiomyopathy
Desmosome
Plakoglobin
Arrhythmogenic right ventricular dysplasia
Cardiology
splice
Desmoglein-2
Medicine
Mutation

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