The mechanism of myotonic dystrophy
β Scribed by Kenneth H. Fischbeck
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 234 KB
- Volume
- 35
- Category
- Article
- ISSN
- 0364-5134
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Prevalence rate of myotonic dystrophy (DM) was estimated in a large sample of the Italian population. Segregation analysis of the affected families suggests that subjects showing minor clinical signs, even in the absence of myotonic features, should be considered as bearers of the DM trait. An appar
## Abstract Myotonic dystrophy type 1 (DM1) is a dominant neuromuscular disorder caused by the expansion of trinucleotide CTG repeats in the 3β²βuntranslated region (3β²βUTR) of the DMPK gene. Prominent features of classical DM1 are muscle wasting and myotonia, whereas mental retardation is distincti