Myotonic dystrophy: emerging mechanisms for DM1 and DM2.

  title={Myotonic dystrophy: emerging mechanisms for DM1 and DM2.},
  author={Diane H. Cho and Stephen J. Tapscott},
  journal={Biochimica et biophysica acta},
  volume={1772 2},
Myotonic dystrophy (DM) is a complex multisystemic disorder linked to two different genetic loci. Myotonic dystrophy type 1 (DM1) is caused by an expansion of a CTG repeat located in the 3' untranslated region (UTR) of DMPK (myotonic dystrophy protein kinase) on chromosome 19q13.3. Myotonic dystrophy type 2 (DM2) is caused by an unstable CCTG repeat in intron 1 of ZNF9 (zinc finger protein 9) on chromosome 3q21. Therefore, both DM1 and DM2 are caused by a repeat expansion in a region… CONTINUE READING