𝔖 Bobbio Scriptorium
✦   LIBER   ✦

From mutation to clinical presentation: Mechanisms in the black box

✍ Scribed by Zheng I. Zhu; Colleen E. Clancy

Book ID
116983680
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
149 KB
Volume
38
Category
Article
ISSN
0022-2828

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

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