Article
The myotonic dystrophy gene.
Archives of neurology - 1 Nov 1993
Pizzuti A, Friedman D L, Caskey C T
Abstract excerpt
The myotonic dystrophy gene codes for a protein kinase and contains a repeated trinucleotide motif (adenine-guanine-cytosine [AGC]) in its transcribed sequence. The repeat is polymorphic in the general population, varying in size from five to 37 AGC units in normal alleles. Myotonic dystrophy pat...
Topics
- Amino Acid Sequence
- Humans
- Molecular Sequence Data
- Mutation
- Myotonic Dystrophy
- Myotonin-Protein Kinase
- Protein Kinases
- Protein Serine-Threonine Kinases
- Repetitive Sequences, Nucleic Acid