Titin Missense Variants as a Cause of Familial Dilated Cardiomyopathy

被引:7
作者
Dominguez, Fernando [1 ,2 ,3 ]
Lalaguna, Laura [2 ]
Martinez-Martin, Ines [2 ]
Piqueras-Flores, Jesus [4 ,5 ]
Rasmussen, Torsten Bloch [6 ]
Zorio, Esther [3 ,7 ]
Giovinazzo, Giovanna [2 ]
Prados, Belen [2 ]
Pablo Ochoa, Juan [2 ]
Bornstein, Belen [1 ]
Gonzalez-Lopez, Esther [1 ,3 ]
Velazquez-Carreras, Diana [2 ]
Pricolo, Maria Rosaria [2 ]
Gutierrez-Aguera, Francisco [2 ]
Antonio Bernal, Juan [2 ]
Herrero-Galan, Elias [2 ]
Alegre-Cebollada, Jorge [2 ]
Lara-Pezzi, Enrique [2 ,3 ]
Garcia-Pavia, Pablo [1 ,2 ,3 ,8 ]
机构
[1] Hosp Univ Puerta Hierro Majadahonda, Dept Cardiol, Heart Failure & Inherited Cardiac Dis Unit, Madrid, Spain
[2] Ctr Nacl Invest Cardiovasc Carlos III, Madrid, Spain
[3] CIBER Cardiovasc Dis CIBERCV, Madrid, Spain
[4] Hosp Univ Ciudad Real, Serv Cardiol, Unidad Cardiopatias Familiares, Ciudad Real, Spain
[5] Univ Castilla La Mancha, Fac Med Ciudad Real, Ciudad Real, Spain
[6] Aarhus Univ Hosp, Dept Cardiol, Aarhus, Denmark
[7] Hosp Univ & Politecn La Fe, Unidad Cardiopatias Familiares Muerte Subita & Me, Inst Invest Sanitaria La Fe, Serv Cardiol, Valencia, Spain
[8] Univ Francisco de Vitoria UFV, Pozuelo De Alarcon, Spain
关键词
cardiomyopathy; dilated; induced pluripotent stem cells; TTN protein; human; MUTATIONS;
D O I
10.1161/CIRCULATIONAHA.122.062833
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:1711 / 1713
页数:3
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[21]   Familial dilated cardiomyopathy in patients transplanted for idiopathic dilated cardiomyopathy [J].
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[27]   Outcomes in Children with Familial Dilated Cardiomyopathy Compared to Children with Idiopathic Dilated Cardiomyopathy [J].
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