The review journal, Frontiers in Neurology, is publishing six new articles on myotonic dystrophy.
Intronic GC-rich microsatellite expansions are common in neurological disorders and act to trigger the intronic retention that underlies disease pathogenesis.
Methodology is reported for robust and reliable quantification of mutant and abberantly spliced RNA in cells from DM patients.
Some of you may have watched the news show, 60 Minutes, on April 29th. The 60 Minutes piece of interest to everyone with an inherited disease, like DM, was titled: “CRISPR: The Gene-Editing Tool Revolutionizing Biomedical Research”.
When cardiologist Dr. William J. Groh examined a young woman with an arrhythmia in 1995, he thought it was unusual. She did not have known heart disease or heart failure that would normally be associated with a serious heart rhythm disturbance. What she did have, though, was myotonic dystrophy (DM).