Desmoplakin disease in arrhythmogenic right ventricular cardiomyopathy: early genotype-phenotype studies

被引：29
|
作者：
Sen-Chowdhry, S [1 ]
Syrris, P [1 ]
McKenna, WJ [1 ]
机构：
[1] UCL Hosp Trust, Heart Hosp, London W1G 8PH, England
来源：
EUROPEAN HEART JOURNAL | 2005年 / 26卷 / 16期
关键词：
D O I：
10.1093/eurheartj/ehi343
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：1582 / 1584
页数：3
相关论文
共 50 条
  • [1] Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation
    Castelletti, Silvia
    Vischer, Annina S.
    Syrris, Petros
    Crotti, Lia
    Spazzolini, Carla
    Ghidoni, Alice
    Parati, Gianfranco
    Jenkins, Sharon
    Kotta, Maria-Christina
    McKenna, William J.
    Schwartz, Peter J.
    Pantazis, Antonis
    INTERNATIONAL JOURNAL OF CARDIOLOGY, 2017, 249 : 268 - 273
  • [2] Disconcordant genotype-phenotype in a family with arrhythmogenic right ventricular cardiomyopathy
    Sukys, Marius
    Ereminiene, Egle
    Nasvytiene, Inga
    Aleknaviciene, Kristina
    Jonikas, Rimvydas
    Cereskevicius, Darius
    Zekiene, Sandra
    Traberg, Rasa
    Ugenskiene, Rasa
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 156 - 156
  • [3] Genotype-phenotype correlation in arrhythmogenic right-ventricular cardiomyopathy linked to desmoplakin mutation (ARVD8)
    Bauce, B
    Rampazzo, A
    Basso, C
    Frigo, G
    Beffagna, G
    Thiene, G
    Danieli, GA
    Nava, A
    EUROPEAN HEART JOURNAL, 2003, 24 : 244 - 244
  • [4] Desmoplakin Missense vs Non-missense Mutations: Genotype-phenotype Correlations in Arrhythmogenic Right Ventricular Cardiomyopathy
    Castelletti, Silvia
    Vischer, Annina S.
    Syrris, Petros
    Crotti, Lia
    Spazzolini, Carla
    Ghidoni, Alice
    Parati, Gianfranco
    Cecchi, Franco
    Jenkins, Sharon
    Kotta, Maria-Christina
    McKenna, William J.
    Schwartz, Peter J.
    Pantazis, Antonis
    CIRCULATION, 2016, 134
  • [5] Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease
    Syrris, Petros
    Ward, Deirdre
    Asimaki, Angeliki
    Evans, Alison
    Sen-Chowdhry, Srijita
    Hughes, Sian E.
    McKenna, William J.
    EUROPEAN HEART JOURNAL, 2007, 28 (05) : 581 - 588
  • [6] Arrhythmogenic left ventricular cardiomyopathy and dilated cardiomyopathy: genotype-phenotype correlations
    Augusto, Bicho J. A.
    Eiros, R.
    Nakou, E.
    Moura-Ferreira, S.
    Treibel, T.
    Captur, G.
    Akhtar, M. M.
    Protonotarios, A.
    Gossios, T. D.
    Savvatis, K.
    Syrris, P.
    Mohiddin, S.
    Moon, J. C.
    Elliott, P. M.
    Lopes, L. R.
    EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING, 2019, 20 : 236 - 237
  • [7] Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin
    Protonotarios, N
    Tsatsopoulou, A
    Anastasakis, A
    Sevdalis, E
    McKoy, G
    Stratos, K
    Gatzoulis, K
    Tentolouris, K
    Spiliopoulou, C
    Panagiotakos, D
    McKenna, W
    Toutouzas, P
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2001, 38 (05) : 1477 - 1484
  • [8] Genotype-phenotype correlation in arrhythmogenic right ventricular cardiomyopathy-risk of arrhythmias and heart failure
    Christensen, Alex Horby
    Platonov, Pyotr G.
    Jensen, Henrik Kjaerulf
    Chivulescu, Monica
    Svensson, Anneli
    Dahlberg, Pia
    Madsen, Trine
    Frederiksen, Tanja Charlotte
    Helio, Tiina
    Lie, Oyvind Haugen
    Haugaa, Kristina H.
    Svendsen, Jesper Hastrup
    Bundgaard, Henning
    JOURNAL OF MEDICAL GENETICS, 2022, 59 (09) : 858 - 864
  • [9] Arrhythmogenic right ventricular dysplasia, a cell adhesion cardiomyopathy: insights into disease pathogenesis from preliminary genotype-phenotype assessment
    Tsatsopoulou, A. A.
    Protonotarios, N. I.
    McKenna, W. J.
    HEART, 2006, 92 (12) : 1720 - 1723
  • [10] Clinical profile and genotype-phenotype assessment of arrhythmogenic right ventricular cardiomyopathy/dysplasia due to desmosomal mutations
    Tsatsopoulou, A.
    Anastasakis, A.
    Antonakopoulos, A.
    Antoniades, L.
    Vouliotis, A.
    Syrris, P.
    Prappa, E.
    Stefanadis, C.
    Mc Kenna, W. J.
    Protonotarios, N.
    EUROPEAN HEART JOURNAL, 2011, 32 : 26 - 26
12345