Identification and characterization of a novel mutation in JPH2-encoded junctophilin-2 in an Italian hypertrophic cardiomyopathy cohort

被引:0
|
作者
Landstrom, Andrew P. [1 ]
Weisleder, Noah
Bos, J. M. [1 ]
Ma, Jianjie [2 ]
Tjondrokoesoemo, Andrea [2 ]
Ommen, Steve R. [1 ]
Olivotto, Iacopo
Cecchi, Franco
Girolami, Francesca [3 ]
Ackerman, Michael J. [1 ]
机构
[1] Mayo Clin, Coll Med, Rochester, MN USA
[2] Rutgers State Univ, Robert Wood Johnson Med Sch, Piscataway, NJ 08854 USA
[3] Univ Careggi, Azienda Osped, Florence, Italy
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:153 / 153
页数:1
相关论文
共 50 条
  • [21] JPH2 p.(Thr161Lys) is a Finnish founder mutation associating to hypertrophic cardiomyopathy with or without systolic heart failure and conduction abnormalities
    Koskenvuo, J. W.
    Leivo, K.
    Vanninen, S.
    Seppala, E. H.
    Aalto-Setala, K.
    Pitkanen, O.
    Suursalmi, P.
    Annala, A. -P.
    Anttila, I.
    Alastalo, T. -P.
    Myllykangas, S.
    Helio, T. H.
    EUROPEAN HEART JOURNAL, 2018, 39 : 1323 - 1324
  • [22] Identification and characterization of novel FGFR2 mutation causing craniosynostosis
    Bae, Han-sol
    Ryoo, Hyun-Mo
    Seo, Ye-jin
    Baek, Seung-Hak
    JOURNAL OF BONE AND MINERAL RESEARCH, 2013, 28
  • [23] Hypertrophic cardiomyopathy in a large cohort of MYBPC3 c.927-2A>G founder mutation carriers
    Adalsteinsdottir, B.
    Burke, M. A.
    Teekakirikul, P.
    Maron, B. J.
    Danielsen, R.
    Seidman, C. E.
    Seidman, J. G.
    Gunnarsson, G. T.
    EUROPEAN HEART JOURNAL, 2014, 35 : 924 - 924
  • [24] Functional impact of a novel α-Actinin 2 mutation associated with hypertrophic cardiomyopathy in human iPSC-derived cardiomyocytes
    Prondzynski, M.
    Lemoine, M.
    Kraemer, E.
    Laufer, S.
    Muench, J.
    Redwood, C.
    Christ, T.
    Patten, M.
    Hansen, A.
    Eschenhagen, T.
    Mearini, G.
    Carrier, L.
    JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY, 2017, 109 : 11 - 12
  • [25] Identification of a novel RUNX2 gene mutation in an Italian family with cleidocranial dysplasia
    Marchisella, Cristiano
    Rolando, Francesca
    Muscarella, Lucia Anna
    Zelante, Leopoldo
    Bracco, Pietro
    Piemontese, Maria Rosaria
    EUROPEAN JOURNAL OF ORTHODONTICS, 2011, 33 (05) : 498 - 502
  • [26] A novel mutation in alpha-actinin-2 responsible for hypertrophic cardiomyopathy identified by massively parallel next generation sequencing
    Girolami, F.
    Iascone, M.
    Bardi, S.
    Berti, L.
    Pezzoli, L.
    Baldini, K.
    Tomberli, B.
    Servettini, E.
    Torricelli, F.
    Cecchi, F.
    EUROPEAN HEART JOURNAL, 2011, 32 : 272 - 272
  • [27] Ventricular pre-excitation and cardiac hypertrophy mimicking hypertrophic cardiomyopathy in a Turkish family with a novel PRKAG2 mutation
    Bayrak, Fatih
    Komurcu-Bayrak, Evrim
    Mutju, Bulent
    Kahveci, Gokhan
    Basaran, Yelda
    Erginel-Unaltuna, Nihan
    EUROPEAN JOURNAL OF HEART FAILURE, 2006, 8 (07) : 712 - 715
  • [28] The identification and characterization of novel HCN2 mutation found in febrile seizure patients
    Nakamura, Y.
    Shi, X.
    Numata, T.
    Inoue, R.
    Mori, Y.
    Hirose, S.
    JOURNAL OF NEUROCHEMISTRY, 2015, 134 : 46 - 46
  • [29] Identification of a novel CCM2 gene mutation in an Italian family with multiple cerebral cavernous malformations and epilepsy: A causative mutation?
    D'Angelo, Rosalia
    Scimone, Concetta
    Calabro, Marco
    Schettino, Carla
    Fratta, Mario
    Sidoti, Antonina
    GENE, 2013, 519 (01) : 202 - 207
  • [30] Severe Hypertrophic Cardiomyopathy in an Infant with a Novel PRKAG2 Gene Mutation: Potential Differences Between Infantile and Adult Onset Presentation
    Kelly, Brendan P.
    Russell, Mark W.
    Hennessy, James R.
    Ensing, Gregory J.
    PEDIATRIC CARDIOLOGY, 2009, 30 (08) : 1176 - 1179