Arrhythmogenic right ventricular cardiomyopathy
Definition:
References:
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[1]. Alessandra Rampazzo, et al. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet. 2002 Nov;71(5):1200-6. [Content Brief]
[2]. Angeliki Asimaki, et al. A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet. 2007 Nov;81(5):964-73. [Content Brief]
[3]. Bongani M Mayosi, et al. Identification of Cadherin 2 ( CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy. Circ Cardiovasc Genet. 2017 Apr;10(2):e001605. [Content Brief]
[4]. Brenda Gerull, et al. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet. 2004 Nov;36(11):1162-4. [Content Brief]
[5]. Brittney Murray, et al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C): a review of molecular and clinical literature. J Genet Couns. 2012 Aug;21(4):494-504. [Content Brief]
[6]. Gaetano Thiene, et al. Arrhythmogenic right ventricular cardiomyopathy/dysplasia. Orphanet J Rare Dis. 2007 Nov 14;2:45. [Content Brief]
[7]. Giorgia Beffagna, et al. Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. Cardiovasc Res. 2005 Feb 1;65(2):366-73. [Content Brief]
[8]. J Peter van Tintelen, et al. Molecular genetics of arrhythmogenic right ventricular cardiomyopathy: emerging horizon?. Curr Opin Cardiol. 2007 May;22(3):185-92. [Content Brief]
[9]. Jolanda van Hengel, et al. Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy. Eur Heart J. 2013 Jan;34(3):201-10. [Content Brief]
[10]. Kalliopi Pilichou, et al. Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation. 2006 Mar 7;113(9):1171-9. [Content Brief]
[11]. Mark M Awad, et al. Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Nat Clin Pract Cardiovasc Med. 2008 May;5(5):258-67. [Content Brief]
[12]. N Tiso, et al. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet. 2001 Feb 1;10(3):189-94. [Content Brief]
[13]. Nancy D Merner, et al. Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. Am J Hum Genet. 2008 Apr;82(4):809-21. [Content Brief]
[14]. Petros Syrris, et al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am J Hum Genet. 2006 Nov;79(5):978-84. [Content Brief]
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