Article
Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers.
American journal of human genetics - 1 May 1992
Klein C J, Coovert D D, Bulman D E, Ray P N, Mendell J R, Burghes A H
Abstract excerpt
Many Duchenne muscular dystrophy (DMD) patients are known to have rare staining dystrophin-positive fibers, termed "revertants." The precise etiology of these rare fibers is unknown. The most likely explanation, however, is somatic mosaicism or somatic reversion/suppression. Immunocytochemistry w...
Topics
- Antibodies
- Chromosome Deletion
- Dystrophin
- Female
- Humans
- Immunohistochemistry
- Male
- Multigene Family
- Muscles
- Muscular Dystrophies
- Mutation
- Pedigree
- Suppression, Genetic