Article
Enormous dystrophin in a patient with Becker muscular dystrophy.
Neurology - 1 May 1990
Angelini C, Beggs A H, Hoffman E P, Fanin M, Kunkel L M
Abstract excerpt
We describe a patient with a duplication of more than 400,000 bp of the dystrophin gene. The duplication is completely contained within the gene, and the duplicated exons are predicted to be "in frame" with the rest of the gene. Dystrophin protein is detected in the patient's muscle as a single s...
Topics
- Adolescent
- Biopsy
- Blotting, Southern
- DNA
- DNA Probes
- DNA Restriction Enzymes
- Dystrophin
- Exons
- Female
- Fluorescent Antibody Technique
- Humans
- Male
- Multigene Family
- Muscle Proteins
- Muscles
- Muscular Dystrophies
- Mutation