Severity, type, and distribution of myotonic discharges are different in type 1 and type 2 myotonic dystrophy
β Scribed by Eric L. Logigian; Emma Ciafaloni; L. Christine Quinn; Nuran Dilek; Shree Pandya; Richard T. Moxley III; Charles A. Thornton
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 200 KB
- Volume
- 35
- 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
Myotonic dystrophy type 1 (DM1) is an autosomal dominant neuromuscular disorder caused by a CTG expansion mutation located in the 3 0 untranslated region of the DMPK (DM1 protein kinase) gene. According to current evidence, mutant DMPK mRNAs containing the trinucleotide expansion are retained in the