Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement - Response

被引:0
|
作者
Brodsky, GL [1 ]
Mestroni, L
Muntoni, F
Sewry, C
Miocic, S
Sinagra, G
机构
[1] Univ Colorado, Cardiovasc Inst, Denver, CO 80202 USA
[2] Hammersmith Hosp, Imperial Coll Sch Med, Dept Paediat, London, England
[3] Osped Maggiore, Div Cardiol, Trieste, 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:E20 / E20
页数:1
相关论文
共 50 条
  • [41] A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy
    Kärkkäinen, S
    Heliö, T
    Miettinen, R
    Tuomainen, P
    Peltola, P
    Rummukainen, J
    Ylitalo, K
    Kaartinen, M
    Kuusisto, J
    Toivonen, L
    Nieminen, MS
    Laakso, M
    Peuhkurinen, K
    EUROPEAN HEART JOURNAL, 2004, 25 (10) : 885 - 893
  • [42] A novel LaminA/C gene mutation associated with family dilated cardiomyopathy with malignant phenotype
    Zheng, WY
    Hui, RT
    Zou, YB
    Song, L
    Gao, JH
    Wang, JZ
    CIRCULATION, 2001, 104 (17) : 611 - 611
  • [43] Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene
    Mercuri, E
    Brown, SC
    Nihoyannopoulos, P
    Poulton, J
    Kinali, M
    Richard, P
    Piercy, RJ
    Messina, S
    Sewry, C
    Burke, MM
    McKenna, W
    Bonne, G
    Muntoni, F
    MUSCLE & NERVE, 2005, 31 (05) : 602 - 609
  • [44] Lamin A/C deficiency as a cause of familial dilated cardiomyopathy
    Malhotra, Rohit
    Mason, Pamela K.
    CURRENT OPINION IN CARDIOLOGY, 2009, 24 (03) : 203 - 208
  • [45] Histopathologic features of lamin A/C mutations in dilated cardiomyopathy
    Sasaki, T
    Bharati, S
    Anan, R
    Seidman, J
    Seidman, C
    CIRCULATION, 2002, 106 (19) : 289 - 289
  • [46] The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins
    Al-Saaidi, Rasha
    Rasmussen, Torsten B.
    Palmfeldt, Johan
    Nissen, Peter H.
    Beqqali, Abdelaziz
    Hansen, Jakob
    Pinto, Yigal M.
    Boesen, Thomas
    Mogensen, Jens
    Bross, Peter
    EXPERIMENTAL CELL RESEARCH, 2013, 319 (19) : 3010 - 3019
  • [47] Clinical significance of lamin A/C mutations in dilated cardiomyopathy
    Arola, AM
    Li, H
    Murphy, R
    McKenna, WJ
    Bowles, NE
    Towbin, JA
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2004, 43 (05) : 231A - 231A
  • [48] Sudden cardiac death in a patient with lamin A/C mutation in the absence of dilated cardiomyopathy or conduction disease
    Philipp Ehlermann
    Stephanie Lehrke
    Theano Papavassiliu
    Benjamin Meder
    Martin Borggrefe
    Hugo A. Katus
    Rainer Schimpf
    Clinical Research in Cardiology, 2011, 100 : 547 - 551
  • [49] Might there be an association between lamin A/C mutation and polycystic kidney disease in patients with dilated cardiomyopathy?
    Sozeri, B.
    Mir, S.
    Berdeli, A.
    Dincel, N.
    PEDIATRIC NEPHROLOGY, 2011, 26 (09) : 1710 - 1711
  • [50] Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy
    Parks, Sharie B.
    Kushner, Jessica D.
    Nauman, Deirdre
    Burgess, Donna
    Ludwigsen, Susan
    Peterson, Amanda
    Li, Duanxiang
    Jakobs, Petra
    Litt, Michael
    Porter, Charles B.
    Rahko, Peter S.
    Hershberger, Ray E.
    AMERICAN HEART JOURNAL, 2008, 156 (01) : 161 - 169