Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy

@article{Perrot2008IdentificationOM,
  title={Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy},
  author={Andreas Perrot and Shwan Hussein and Volker Ruppert and Hartmut Hans-J{\"u}rgen Schmidt and Manfred S. Wehnert and Nguyen Thuy Duong and Maximilian G. Posch and Anna Panek and Rainer Dietz and Ingrid Kindermann and Michael B{\"o}hm and Aleksandra Michalewska-Wludarczyk and Anette Richter and Bernhard Maisch and Sabine Pankuweit and Cemil Oezcelik},
  journal={Basic Research in Cardiology},
  year={2008},
  volume={104},
  pages={90-99}
}
The familial form of dilated cardiomyopathy (DCM) occurs in about 20%–50% of DCM cases. It is a heterogenous genetic disease: mutations in more than 20 different genes have been shown to cause familial DCM. LMNA, encoding the nuclear membrane protein lamin A/C, is one of the most inportant disease gene for that disease. Therefore, we analyzed the LMNA gene in a large cohort of 73 patients with familial DCM. Clinical examination (ECG, echocardiography, and catheterization) was followed by… CONTINUE READING
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Translational activation of 5’-TOP mRNA in pressure overload myocardium

  • WJ JrTuxworth, H Shiraishi, PC Moschella, K Yamane, PJ McDermott, D Kuppuswamy
  • Basic Res Cardiol
  • 2008
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