Article
Somatic instability of CTG repeat in myotonic dystrophy.
Neurology - 1 Dec 1993
Ashizawa T, Dubel J R, Harati Y
Abstract excerpt
An unstable expansion of the CTG repeat in the 3' untranslated region of the myotonin protein kinase (MT-PK) gene is the mutation specific for myotonic dystrophy (DM). To examine somatic stability of the repeat, we studied tissue variability of the repeat size. In five DM patients, the restriction fragment containing the repeat region was substantially larger in skeletal muscle than in peripheral blood leukocytes...
Topics
- Alleles
- Base Sequence
- Blood Cells
- Blotting, Southern
- Cell Line, Transformed
- DNA
- Drug Stability
- Humans
- Lymphocytes
- Molecular Sequence Data
- Muscles
- Myotonic Dystrophy