RNA pathogenesis of the myotonic dystrophies.

  title={RNA pathogenesis of the myotonic dystrophies.},
  author={John W. Day and Laura P. W. Ranum},
  journal={Neuromuscular disorders : NMD},
  volume={15 1},
Myotonic dystrophy (dystrophia myotonica, DM) is the most common form of muscular dystrophy in adults. The presence of two genetic forms of this complex multisystemic disease (DM1 and DM2) was unrecognized until the genetic cause of DM1 was identified in 1992. The fact that the DM1 mutation is an untranslated CTG expansion led to extended controversy about the molecular pathophysiology of this disease. When the DM2 mutation was identified in 2001 as being a similarly untranslated CCTG expansion… CONTINUE READING