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Problems arising in correlating clinical and molecular data in myotonic dystrophy

✍ Scribed by M. Giordano; M. S. De Angelis; R. Cantello; N. A. Abdirisak; R. Mutani; P. Momigliano Richiardi

Book ID
115091678
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
306 KB
Volume
47
Category
Article
ISSN
0009-9163

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Myotonic dystrophy 1 in the nervous syst
Myotonic dystrophy 1 in the nervous system: From the clinic to molecular mechanisms
✍ Mario BermΓΊdez de LeΓ³n; Bulmaro Cisneros πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 124 KB

## Abstract Myotonic dystrophy type 1 (DM1) is a dominant neuromuscular disorder caused by the expansion of trinucleotide CTG repeats in the 3′‐untranslated region (3′‐UTR) of the DMPK gene. Prominent features of classical DM1 are muscle wasting and myotonia, whereas mental retardation is distincti