Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.

@article{Hershberger2008CodingSM,
  title={Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.},
  author={Ray E. Hershberger and Sharie B Parks and Jessica D. Kushner and Duanxiang Li and Susan Ludwigsen and Petra M. Jakobs and Deirdre J. Nauman and Donna Burgess and Julie D Partain and M. Litt},
  journal={Clinical and translational science},
  year={2008},
  volume={1 1},
  pages={21-6}
}
BACKGROUND More than 20 genes have been reported to cause idiopathic and familial dilated cardiomyopathy (IDC/FDC), but the frequency of genetic causation remains poorly understood. METHODS AND RESULTS Blood samples were collected and DNA prepared from 313 patients, 183 with FDC and 130 with IDC. Genomic DNA underwent bidirectional sequencing of six genes, and mutation carriers were followed up by evaluation of additional family members. We identified in 36 probands, 31 unique protein… CONTINUE READING