Article
RNA pathogenesis of the myotonic dystrophies.
Neuromuscular disorders : NMD - 1 Jan 2005
Day John W, Ranum Laura P W
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.