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Development of a disability scale for myotonic dystrophy type 1

✍ Scribed by S. Contardi; F. Pizza; F. Falzone; R. D'Alessandro; P. Avoni; V. Di Stasi; P. Montagna; R. Liguori

Book ID
114784814
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
111 KB
Volume
125
Category
Article
ISSN
0001-6314

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Improved method for molecular diagnosis
Improved method for molecular diagnosis of myotonic dystrophy type 1 (DM1)
✍ Nihan Erginel-Unaltuna; Fahri Akbas πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 180 KB

## Abstract Myotonic dystrophy type 1 (DM1) has been identified as the amplification of a polymorphic (CTG)n repeat in the 3β€² 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.