Article
Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy.
Human molecular genetics - 1 Jun 1993
Winnard A V, Klein C J, Coovert D D, Prior T, Papp A, Snyder P, Bulman D E, Ray P N, McAndrew P, King W
Abstract excerpt
The clinical progression of Duchenne muscular dystrophy (DMD) patients with deletions can be predicted in 93% of cases by whether the deletion maintains or disrupts the translational reading frame (frameshift hypothesis). We have identified and studied a number of patients who have deletions that...
Topics
- Adolescent
- Adult
- Base Sequence
- Blotting, Western
- Child
- DNA Mutational Analysis
- Dystrophin
- Exons
- Frameshift Mutation
- Humans
- Male
- Models, Genetic
- Molecular Sequence Data
- Muscular Dystrophies
- Phenotype
- Polymerase Chain Reaction
- Protein Biosynthesis
- Sequence Deletion