Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes.

@article{Posch2009GeneticDO,
  title={Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes.},
  author={Maximilian G. Posch and Andreas Perrot and Christian Geier and L -H Boldt and Gunther Schmidt and Hans Brendan Lehmkuhl and Roland Hetzer and Rainer Dietz and Matthias Gutberlet and Wilhelm Haverkamp and Cemil Ozcelik},
  journal={Heart rhythm},
  year={2009},
  volume={6 4},
  pages={480-6}
}
BACKGROUND Familial dilated cardiomyopathy is a highly heterogeneous genetic disease. Thus, identification of disease-causing mutations is a challenging and time-consuming task. Genotype-phenotype associations may alleviate identification of the underlying mutation. OBJECTIVE The purpose of this study was to investigate cardiac phenotypes within a family harboring a familial dilated cardiomyopathy-related mutation in the gene encoding phospholamban. METHODS Complete genetic and clinical… CONTINUE READING
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