Article
Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene.
Science (New York, N.Y.) - 6 Mar 1992
Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neville C, Narang M, Barceló J, O'Hoy K
Abstract excerpt
Myotonic dystrophy (DM) is the most common inherited neuromuscular disease in adults, with a global incidence of 1 in 8000 individuals. DM is an autosomal dominant, multisystemic disorder characterized primarily by myotonia and progressive muscle weakness. Genomic and complementary DNA probes tha...
Topics
- Base Sequence
- Blotting, Southern
- Chromosomes, Human, Pair 19
- Codon
- DNA
- Deoxyribonuclease EcoRI
- Humans
- Molecular Sequence Data
- Mutation
- Myotonic Dystrophy
- Nucleic Acid Hybridization
- Polymerase Chain Reaction