Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy.

  title={Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy.},
  author={Matthew R G Taylor and Dobromir Slavov and Andreas Gajewski and Sylvia Vlcek and Lisa Ku and Pamela R. Fain and Elisa Carniel and Andrea di Lenarda and Gianfranco Sinagra and Mark M. Boucek and Jean L Cavanaugh and Sharon L. Graw and Patsy Ruegg and Jennie W Feiger and Xiao Zhong Zhu and Debra A Ferguson and Michael R. Bristow and Josef Gotzmann and Roland Foisner and Luisa Mestroni},
  journal={Human mutation},
  volume={26 6},
Thymopoietin or TMPO (indicated by its alternative gene symbol, LAP2, in this work) has been proposed as a candidate disease gene for dilated cardiomyopathy (DCM), since a LAP2 product associates with nucleoplasmic lamins A/C, which are encoded by the DCM gene LMNA. We developed a study to screen for genetic mutations in LAP2 in a large collection of DCM patients and families. A total of 113 subjects from 88 families (56 with familial DCM (FDC) and 32 with sporadic DCM) were screened for LAP2… CONTINUE READING