Arrhythmogenic right ventricular cardiomyopathy, The Lancet, vol.373, issue.9671, pp.1289-1300, 2009. ,
DOI : 10.1016/S0140-6736(09)60256-7
URL : https://hal.archives-ouvertes.fr/hal-00514615
Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: Proposed Modification of the Task Force Criteria, European Heart Journal, vol.31, issue.7, pp.806-814, 2010. ,
DOI : 10.1093/eurheartj/ehq025
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy, Nature Genetics, vol.65, issue.11, pp.1162-1164, 2004. ,
DOI : 10.1038/ng1097-240
Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy, Circulation, vol.113, issue.9, pp.1171-1179, 2006. ,
DOI : 10.1161/CIRCULATIONAHA.105.583674
DSG2 Mutations Contribute to Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, The American Journal of Human Genetics, vol.79, issue.1, pp.136-142, 2006. ,
DOI : 10.1086/504393
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.2119-2124, 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.2761-2766, 2000. ,
DOI : 10.1093/hmg/9.18.2761
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.978-984, 2006. ,
DOI : 10.1086/509122
Mutant Desmocollin-2 Causes Arrhythmogenic Right Ventricular Cardiomyopathy, The American Journal of Human Genetics, vol.79, issue.6, pp.1081-1088, 2006. ,
DOI : 10.1086/509044
URL : http://doi.org/10.1086/509044
Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice, Europace, vol.12, issue.6, pp.861-868, 2010. ,
DOI : 10.1093/europace/euq104
URL : https://hal.archives-ouvertes.fr/inserm-00588266
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.189-194, 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.366-373, 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.809-821, 2008. ,
DOI : 10.1016/j.ajhg.2008.01.010
Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy, European Heart Journal, vol.33, issue.9, pp.1128-1136, 2012. ,
DOI : 10.1093/eurheartj/ehr451
Genetic Variation in Titin in Arrhythmogenic Right Ventricular Cardiomyopathy-Overlap Syndromes, Circulation, vol.124, issue.8, pp.876-885, 2011. ,
DOI : 10.1161/CIRCULATIONAHA.110.005405
Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks, Heart Rhythm, vol.7, issue.8, pp.1058-1064, 2010. ,
DOI : 10.1016/j.hrthm.2010.04.023
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy, European Journal of Heart Failure, vol.31, issue.11, pp.1199-1207, 2012. ,
DOI : 10.1093/eurjhf/hfs119
Mutations of the Cardiac Ryanodine Receptor (RyR2) Gene in Familial Polymorphic Ventricular Tachycardia, Circulation, vol.103, issue.4, pp.485-490, 2001. ,
DOI : 10.1161/01.CIR.103.4.485
Mutations in the Cardiac Ryanodine Receptor Gene (hRyR2) Underlie Catecholaminergic Polymorphic Ventricular Tachycardia, Circulation, vol.103, issue.2, pp.196-200, 2001. ,
DOI : 10.1161/01.CIR.103.2.196
Juvenile sudden death and effort ventricular tachycardias in a family with right ventricular cardiomyopathy, International Journal of Cardiology, vol.21, issue.2, pp.111-126, 1988. ,
DOI : 10.1016/0167-5273(88)90212-4
A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43, Human Molecular Genetics, vol.4, issue.11, pp.2151-2154, 1995. ,
DOI : 10.1093/hmg/4.11.2151
Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death, Journal of the American College of Cardiology, vol.40, issue.2, pp.341-349, 2002. ,
DOI : 10.1016/S0735-1097(02)01946-0
Juvenile sudden death in a family with polymorphic ventricular arrhythmias caused by a novel RyR2 gene mutation: evidence of specific morphological substrates, Human Pathology, vol.36, issue.7, pp.761-767, 2005. ,
DOI : 10.1016/j.humpath.2005.04.019
Composite polymorphisms in the ryanodine receptor 2 gene associated with arrhythmogenic right ventricular cardiomyopathy, Cardiovascular Research, vol.71, issue.3, pp.496-505, 2006. ,
DOI : 10.1016/j.cardiores.2006.04.004
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.215-218, 1994. ,
DOI : 10.1136/hrt.71.3.215
New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia, European Heart Journal, vol.34, issue.suppl 1, pp.481-489, 2013. ,
DOI : 10.1093/eurheartj/eht308.P2292
Topology of the Ca2+ release channel of skeletal muscle sarcoplasmic reticulum (RyR1), Proceedings of the National Academy of Sciences, vol.99, issue.26, pp.16725-16730, 2002. ,
DOI : 10.1073/pnas.012688999
Altered function and regulation of cardiac ryanodine receptors in cardiac disease, Trends in Biochemical Sciences, vol.28, issue.12, pp.671-678, 2003. ,
DOI : 10.1016/j.tibs.2003.10.003
Postmortem genetic testing of the ryanodine receptor 2 (RYR2) gene in a cohort of sudden unexplained death cases, International Journal of Legal Medicine, vol.192, issue.1???3, pp.139-144, 2013. ,
DOI : 10.1007/s00414-011-0658-2
Ryanodine receptor mutations in arrhythmias: advances in understanding the mechanisms of channel dysfunction, Biochemical Society Transactions, vol.35, issue.5, pp.946-951, 2007. ,
DOI : 10.1042/BST0350946
Inherited Dysfunction of Sarcoplasmic Reticulum Ca2+ Handling and Arrhythmogenesis, Circulation Research, vol.108, issue.7, pp.871-883, 2011. ,
DOI : 10.1161/CIRCRESAHA.110.226845
Cardiac excitation???contraction coupling, Nature, vol.415, issue.6868, pp.198-205, 2002. ,
DOI : 10.1038/415198a
Field guide to next-generation DNA sequencers, Molecular Ecology Resources, vol.463, issue.Suppl. 1, pp.759-769, 2011. ,
DOI : 10.1111/j.1755-0998.2011.03024.x