Missense Mutations in the FLNC Gene Causing Familial Restrictive Cardiomyopathy Growing Evidence

被引:18
|
作者
Roldan-Sevilla, Alvaro [1 ]
Palomino-Doza, Julian [1 ,5 ,6 ]
de Juan, Javier [2 ,5 ]
Sanchez, Violeta [3 ,5 ,6 ]
Dominguez-Gonzalez, Cristina [4 ,5 ]
Salguero-Bodes, Rafael [1 ,5 ]
Arribas-Ynsaurriaga, Fernando [1 ,5 ,6 ]
机构
[1] Hosp Univ 12 Octubre, Dept Cardiol, Hereditary Cardiopathies Unit, Madrid, Spain
[2] Hosp Univ 12 Octubre, Dept Cardiol, Cardiac Failure Unit, Madrid, Spain
[3] Univ Hosp 12 Octubre, Dept Cardiol, Imaging Unit, Madrid, Spain
[4] Hosp Univ 12 Octubre, CIBERER, Dept Neurol, Neuromuscular Disorders Unit, Madrid, Spain
[5] Inst Invest 12 Octubre I 12, Madrid, Spain
[6] Ctr Invest Biomed Red Enfermedades Cardiovasc CIB, Madrid, Spain
来源
关键词
cardiomyopathies; diagnostics; genetics; mutation;
D O I
10.1161/CIRCGEN.118.002388
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页数:3
相关论文
共 50 条
  • [1] Letter by Ahamed and Subramanian Regarding Article "Missense Mutations in the FLNC Gene Causing Familial Restrictive Cardiomyopathy"
    Ahamed, Hisham
    Subramanian, Muthiah
    CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2019, 12 (07):
  • [2] Response by Roldan-Sevilla to Letter Regarding Article, "Missense Mutations in the FLNC Gene Causing Familial Restrictive Cardiomyopathy"
    Roldan-Sevilla, Alvaro
    Salguero-Bodes, Rafael
    Valverde-Gomez, Maria
    Delgado, Juan
    Arribas-Ynsaurriaga, Fernando
    Palomino-Doza, Julian
    CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2019, 12 (07):
  • [3] Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy
    Brodehl, Andreas
    Ferrier, Raechel A.
    Hamilton, Sara J.
    Greenway, Steven C.
    Brundler, Marie-Anne
    Yu, Weiming
    Gibson, William T.
    McKinnon, Margaret L.
    McGillivray, Barbara
    Alvarez, Nanette
    Giuffre, Michael
    Schwartzentruber, Jeremy
    Gerull, Brenda
    HUMAN MUTATION, 2016, 37 (03) : 269 - 279
  • [4] Identification of a Missense Mutation in the FLNC Gene from a Chinese Family with Restrictive Cardiomyopathy
    Dong, Jiangtao
    Zhang, Wenjuan
    Chen, Qianwen
    Zha, Lingfeng
    JOURNAL OF MULTIDISCIPLINARY HEALTHCARE, 2024, 17 : 5363 - 5373
  • [5] FLNC missense variants in familial noncompaction cardiomyopathy
    van Waning, Jaap, I
    Hoedemaekers, Yvonne M.
    te Rijdt, Wouter P.
    Jpma, Arne, I
    Heijsman, Daphne
    Caliskan, Kadir
    Hoendermis, Elke S.
    Willems, Tineke P.
    van den Wijngaard, Arthur
    Suurmeijer, Albert
    van Slegtenhorst, Marjon A.
    Jongbloed, Jan D. H.
    Majoor-Krakauer, Danielle F.
    van der Zwaag, Paul A.
    CARDIOGENETICS, 2019, 9 (01) : 9 - 13
  • [6] Modeling FLNC Mutations Causing Cardiomyopathy
    Ohiri, Joyce C.
    CIRCULATION RESEARCH, 2020, 127
  • [7] Identification of a Missense Mutation in the FLNC Gene from a Chinese Family with Restrictive Cardiomyopathy [Letter]
    Idrus, Hasta Handayani
    JOURNAL OF MULTIDISCIPLINARY HEALTHCARE, 2024, 17 : 5811 - 5812
  • [8] Familial Restrictive Cardiomyopathy caused by a missense mutation in the desmin gene
    Bowles, NE
    Jimenez, S
    Vatta, M
    Chrisco, M
    Szmuszkoviez, J
    Capetanaki, Y
    Perles, Z
    Towbin, JA
    PEDIATRIC RESEARCH, 2002, 51 (04) : 224A - 224A
  • [9] Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy
    Tucker, Nathan R.
    McLellan, Micheal A.
    Hu, Dongjian
    Ye, Jiangchuan
    Parsons, Victoria A.
    Mills, Robert W.
    Clauss, Sebastian
    Dolmatova, Elena
    Shea, Marisa A.
    Milan, David J.
    Scott, Nandita S.
    Lindsay, Mark
    Lubitz, Steven A.
    Domian, Ibrahim J.
    Stone, James R.
    Lin, Honghuang
    Ellinor, Patrick T.
    CIRCULATION-CARDIOVASCULAR GENETICS, 2017, 10 (06)
  • [10] Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia
    Gundersen, KE
    Solberg, K
    Rodningen, OK
    Tonstad, S
    Ose, L
    Berg, K
    Leren, TP
    CLINICAL GENETICS, 1996, 49 (02) : 85 - 87