Article
Immunohistochemical studies show truncated dystrophins in the myotubes of three fetuses at risk for Duchenne muscular dystrophy.
Journal of medical genetics - 1 Aug 1991
Ginjaar I B, Bakker E, van Paassen M M, den Dunnen J T, Wessels A, Zubrzycka-Gaarn E E, Moorman A F, van Ommen G J
Abstract excerpt
We have performed immunohistochemical studies on muscle tissue of three 12 week old fetuses at risk for DMD, using antisera directed against regions located NH2-proximally and centrally in the rod shaped spectrin-like domain and against the COOH-terminus of dystrophin. All three fetuses had a family history of DMD. Truncated dystrophins were identified in all three cases by a positive reaction with the...
Topics
- Dystrophin
- Female
- Fetal Diseases
- Haplotypes
- Heterozygote
- Humans
- Immunohistochemistry
- Male
- Muscles
- Muscular Dystrophies
- Mutation