| 1 | ARVD10, DSG2
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| A founder homozygous DSG2 variant in East Asia results in ARVC with full penetrance and heart failure phenotype.
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| Chen L, Rao M, Chen X, Chen K, Ren J, Zhang N, Zhao Q, Yu W, Yuan B, Song J.
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| Int J Cardiol 274:263-270. doi: 10.1016/j.ijcard.2018.06.105. Epub 2018 Jun 28.
2019
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| 2 | ARVD10, CMD1BB, DSG2
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| Whole Genome Sequence Identified a Rare Homozygous Pathogenic Mutation of the DSG2 Gene in a Familial Arrhythmogenic Cardiomyopathy Involving Both Ventricles.
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| Lin Y, Zhang Q, Zhong ZA, Xu Z, He S, Rao F, Liu Y, Tang J, Wang F, Liu H, Xie J, Wu H, Wang S, Li X, Shan Z, Deng C, Liao Z, Deng H, Liao H, Xue Y, Chen W, Zhan X, Zhang B, Wu S.
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| Cardiology 138(1):41-54. doi: 10.1159/000462962. Epub 2017 Jun 3.
2017
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| 3 | ARVD10, DSC2
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| Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy.
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| Lorenzon A, Pilichou K, Rigato I, Vazza G, De Bortoli M, Calore M, Occhi G, Carturan E, Lazzarini E, Cason M, Mazzotti E, Poloni G, Mostacciuolo ML, Daliento L, Thiene G, Corrado D, Basso C, Bauce B, Rampazzo A.
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| Am J Cardiol 116(8):1245-51. doi: 10.1016/j.amjcard.2015.07.037. Epub 2015 Jul 28.
2015
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| 4 | ARVD10, DSC2
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| Arrhythmogenic right ventricular cardiomyopathy with recessive inheritance related to a new homozygous desmocollin-2 mutation.
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| Al-Sabeq B, Krahn AD, Conacher S, Klein GJ, Laksman Z.
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| Can J Cardiol 30(6):696.e1-3. doi: 10.1016/j.cjca.2014.01.014. Epub 2014 Jan 23.
2014
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| 5 | ARVD10, DSG2
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| Desmosomal cadherins are decreased in explanted arrhythmogenic right ventricular dysplasia/cardiomyopathy patient hearts.
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| Vite A, Gandjbakhch E, Prost C, Fressart V, Fouret P, Neyroud N, Gary F, Donal E, Varnous S, Fontaine G, Fornes P, Hidden-Lucet F, Komajda M, Charron P, Villard E.
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| PLoS One 8(9):e75082. doi: 10.1371/journal.pone.0075082. eCollection 2013.
2013
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| 6 | ARVD10, DSG2
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| Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
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| Barahona-Dussault C, Benito B, Campuzano O, Iglesias A, Leung TL, Robb L, Talajic M, Brugada R.
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| Clin Genet 77(1):37-48. Epub 2009 Oct 15.PMID: 19863551 2010
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| 7 | ARVD10, ARVD8, ARVD9, ARVDPPK, DSC2, DSG2, DSP, JUP, PKP
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| Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.
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| Christensen AH, Benn M, Bundgaard H, Tybjaerg-Hansen A, Haunso S, Svendsen JH.
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| J Med Genet 47(11):736-44. Epub 2010 Sep 23.
2010
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| 8 | ARVD10, DSC2
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| Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.
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| Simpson MA, Mansour S, Ahnood D, Kalidas K, Patton MA, McKenna WJ, Behr ER, Crosby AH.
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| Cardiology 113(1):28-34. doi: 10.1159/000165696. Epub 2008 Oct 29.
2009
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| 9 | ARVD10, DSG2
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| Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease.
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| Syrris P, Ward D, Asimaki A, Evans A, Sen-Chowdhry S, Hughes SE, McKenna WJ.
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| Eur Heart J 28(5):581-8. Epub 2006 Nov 14.PMID: 17105751 2007
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| 10 | DSG2, ARVD10
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| DSG2 Mutations Contribute to Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy.
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| Awad MM, Dalal D, Cho E, Amat-Alarcon N, James C, Tichnell C, Tucker A, Russell SD, Bluemke DA, Dietz HC, Calkins H, Judge DP.
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| Am J Hum Genet 79(1):136-42. Epub 2006 Apr 28. 2006
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| 11 | DSC2, ARVD10
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| Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2.
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| Syrris P, Ward D, Evans A, Asimaki A, Gandjbakhch E, Sen-Chowdhry S, McKenna WJ.
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| Am J Hum Genet 79(5):978-84. Epub 2006 Sep 27. 2006
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| 12 | DSC2, ARVD10
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| Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.
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| Heuser A, Plovie ER, Ellinor PT, Grossmann KS, Shin JT, Wichter T, Basson CT, Lerman BB, Sasse-Klaassen S, Thierfelder L, MacRae CA, Gerull B.
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| Am J Hum Genet 79(6):1081-8. Epub 2006 Oct 3. 2006
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| 13 | DSG2, ARVD10
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| Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy.
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| Pilichou K, Nava A, Basso C, Beffagna G, Bauce B, Lorenzon A, Frigo G, Vettori A, Valente M, Towbin J, Thiene G, Danieli GA, Rampazzo A.
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| Circulation 113(9):1171-9. Epub 2006 Feb 27. 2006
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