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Absent, unrecognized, and minimal myotonic discharges in myotonic dystrophy type 2

✍ Scribed by Nathan P. Young; Jasper R. Daube; Eric J. Sorenson; Margherita Milone


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
103 KB
Volume
41
Category
Article
ISSN
0148-639X

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## Abstract Myotonic dystrophy (DM1), the most common adult muscular dystrophy, is a multisystem, autosomal dominant genetic disorder caused by an expanded CTG repeat that leads to nuclear retention of a mutant RNA and subsequent RNA toxicity. Significant insights into the molecular mechanisms of R