Right ventricular dysplasia: a report of 24 adult cases, Circulation, vol.65, issue.2, pp.384-98, 1982. ,
DOI : 10.1161/01.CIR.65.2.384
Arrhythmogenic right ventricular cardiomyopathy, The Lancet, vol.373, issue.9671, pp.1289-300, 2009. ,
DOI : 10.1016/S0140-6736(09)60256-7
URL : https://hal.archives-ouvertes.fr/hal-00514615
Arrhythmogenic right ventricular cardiomyopathy/dysplasia: An update, Current Cardiology Reports, vol.79, issue.5, pp.367-75, 2008. ,
DOI : 10.1007/s11886-008-0059-4
Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology., Heart, vol.71, issue.3, pp.215-223, 1994. ,
DOI : 10.1136/hrt.71.3.215
Classification of the cardiomyopathies: a position statement from the european society of cardiology working group on myocardial and pericardial diseases, European Heart Journal, vol.29, issue.2, pp.270-276, 2008. ,
DOI : 10.1093/eurheartj/ehm342
Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria, Journal of the American College of Cardiology, vol.40, issue.8, pp.1445-50, 2002. ,
DOI : 10.1016/S0735-1097(02)02307-0
Role of Genetic Analysis in the Management of Patients With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Journal of the American College of Cardiology, vol.50, issue.19, pp.1813-1834, 2007. ,
DOI : 10.1016/j.jacc.2007.08.008
Mechanisms of Disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy, Nature Clinical Practice Cardiovascular Medicine, vol.218, issue.5, pp.258-67, 2008. ,
DOI : 10.1038/ncpcardio1182
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease), The Lancet, vol.355, issue.9221, pp.2119-2143, 2000. ,
DOI : 10.1016/S0140-6736(00)02379-5
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma, Human Molecular Genetics, vol.9, issue.18, pp.2761-2767, 2000. ,
DOI : 10.1093/hmg/9.18.2761
Mutation in Human Desmoplakin Domain Binding to Plakoglobin Causes a Dominant Form of Arrhythmogenic Right Ventricular Cardiomyopathy, The American Journal of Human Genetics, vol.71, issue.5, pp.1200-1206, 2002. ,
DOI : 10.1086/344208
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy, Nature Genetics, vol.65, issue.11, pp.1162-1166, 2004. ,
DOI : 10.1038/ng1097-240
Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy, Circulation, vol.113, issue.9, pp.1171-1180, 2006. ,
DOI : 10.1161/CIRCULATIONAHA.105.583674
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Associated with Mutations in the Desmosomal Gene Desmocollin-2, The American Journal of Human Genetics, vol.79, issue.5, pp.978-84, 2006. ,
DOI : 10.1086/509122
DSG2 Mutations Contribute to Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, The American Journal of Human Genetics, vol.79, issue.1, pp.136-178, 2006. ,
DOI : 10.1086/504393
Mutant Desmocollin-2 Causes Arrhythmogenic Right Ventricular Cardiomyopathy, The American Journal of Human Genetics, vol.79, issue.6, pp.1081-1089, 2006. ,
DOI : 10.1086/509044
Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2), Human Molecular Genetics, vol.10, issue.3, pp.189-94, 2001. ,
DOI : 10.1093/hmg/10.3.189
Regulatory mutations in transforming growth factor-?3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1, Cardiovascular Research, vol.65, issue.2, pp.366-73, 2005. ,
DOI : 10.1016/j.cardiores.2004.10.005
Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene, The American Journal of Human Genetics, vol.82, issue.4, pp.1-13, 2008. ,
DOI : 10.1016/j.ajhg.2008.01.010
Natural History and Risk Stratification of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Circulation, vol.110, issue.14, pp.1879-84, 2004. ,
DOI : 10.1161/01.CIR.0000143375.93288.82
Plakophilin-2 Mutations Are the Major Determinant of Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Circulation, vol.113, issue.13, pp.1650-1658, 2006. ,
DOI : 10.1161/CIRCULATIONAHA.105.609719
Clinical Expression of Plakophilin-2 Mutations in Familial Arrhythmogenic Right Ventricular Cardiomyopathy, Circulation, vol.113, issue.3, pp.356-64, 2006. ,
DOI : 10.1161/CIRCULATIONAHA.105.561654
Comprehensive Desmosome Mutation Analysis in North Americans With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Circulation: Cardiovascular Genetics, vol.2, issue.5, pp.428-463, 2009. ,
DOI : 10.1161/CIRCGENETICS.109.858217
Clinical features, survival experience and profile of plakophiline-2 gene mutations in participants of the arrythmogenic right ventricular cardiomyopathy registry of south africa, Heart Rythm, vol.11, pp.10-17, 2009. ,
A Novel Dominant Mutation in Plakoglobin Causes Arrhythmogenic Right Ventricular Cardiomyopathy, The American Journal of Human Genetics, vol.81, issue.5, pp.964-73, 2007. ,
DOI : 10.1086/521633
Plakophilin-2 missense mutations in arrhythmogenic right ventricular cardiomyopathy, International Journal of Cardiology, vol.126, issue.1, pp.92-100, 2008. ,
DOI : 10.1016/j.ijcard.2007.03.137
Sporadic arrhythmogenic right ventricular cardiomyopathy/dysplasia due to a de novo mutation, Europace, vol.11, issue.3, pp.379-81, 2009. ,
DOI : 10.1093/europace/eun378
Clinical and Genetic Characterization of Families With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Provides Novel Insights Into Patterns of Disease Expression, Circulation, vol.115, issue.13, pp.1710-1730, 2007. ,
DOI : 10.1161/CIRCULATIONAHA.106.660241
Clinical Features of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Associated With Mutations in Plakophilin-2, Circulation, vol.113, issue.13, pp.1641-1650, 2006. ,
DOI : 10.1161/CIRCULATIONAHA.105.568642
Loss of Desmoplakin Tail Causes Lethal Acantholytic Epidermolysis Bullosa*, The American Journal of Human Genetics, vol.77, issue.4, pp.653-60, 2005. ,
DOI : 10.1086/496901
Arrhythmogenic Right Ventricular Dysplasia: Clinical Characteristics and Identification of Novel Desmosome Gene Mutations, Journal of the Formosan Medical Association, vol.107, issue.7, pp.548-58, 2008. ,
DOI : 10.1016/S0929-6646(08)60168-0
Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: an electron microscopy investigation on endomyocardial biopsies, European Heart Journal, vol.27, issue.15, pp.1847-54, 2006. ,
DOI : 10.1093/eurheartj/ehl095
Desmoglein-2 and Desmocollin-2 Mutations in Dutch Arrhythmogenic Right Ventricular Dysplasia/Cardiomypathy Patients: Results From a Multicenter Study, Circulation: Cardiovascular Genetics, vol.2, issue.5, pp.418-445, 2009. ,
DOI : 10.1161/CIRCGENETICS.108.839829
Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia, Heart Rhythm, vol.7, issue.1, pp.22-31, 2010. ,
DOI : 10.1016/j.hrthm.2009.09.070