Cognitive impairment in myotonic dystrophy type 1 (DM1)
β Scribed by A. Modoni; G. Silvestri; M. Gabriella Vita; D. Quaranta; P. A. Tonali; C. Marra
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 179 KB
- Volume
- 255
- Category
- Article
- ISSN
- 0340-5354
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## Abstract Myotonic dystrophy type 1 (DM1) has been identified as the amplification of a polymorphic (CTG)n repeat in the 3β² untranslated region of a gene encoding a serine/threonine kinase (DMPK). The length of the CTG repeat correlates with clinical severity and the age at onset of the disease.
## 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