Article
Instability of the expanded (CTG)n repeats in the myotonin protein kinase gene in cultured lymphoblastoid cell lines from patients with myotonic dystrophy.
Genomics - 15 Aug 1996
Ashizawa T, Monckton D G, Vaishnav S, Patel B J, Voskova A, Caskey C T
Abstract excerpt
The mutation associated with myotonic dystrophy (DM) is the expansion of an unstable trinucleotide repeat, (CTG)n, in the 3'-untranslated region of the myotonin protein kinase gene. Although expanded repeats show both germline and somatic instability, the mechanisms of the instability are poorly...
Topics
- Alleles
- Cell Line
- Clone Cells
- DNA
- Humans
- Lymphocytes
- Mutation
- Myotonic Dystrophy
- Myotonin-Protein Kinase
- Polymerase Chain Reaction
- Protein Kinases
- Protein Serine-Threonine Kinases
- Trinucleotide Repeats