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Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.
Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA, Lerman BB, Markowitz SM, Ellinor PT, MacRae CA, Peters S, Grossmann KS, Drenckhahn J, Michely B, Sasse-Klaassen S, Birchmeier W, Dietz R, Breithardt G, Schulze-Bahr E, Thierfelder L. Gerull B, et al. Nat Genet. 2004 Nov;36(11):1162-4. doi: 10.1038/ng1461. Epub 2004 Oct 17. Nat Genet. 2004. PMID: 15489853
Patient Outcomes From a Specialized Inherited Arrhythmia Clinic.
Adler A, Sadek MM, Chan AY, Dell E, Rutberg J, Davis D, Green MS, Spears DA, Gollob MH. Adler A, et al. Circ Arrhythm Electrophysiol. 2016 Jan;9(1):e003440. doi: 10.1161/CIRCEP.115.003440. Circ Arrhythm Electrophysiol. 2016. PMID: 26743238