Article
Immunohistological evidence for second or somatic mutations as the underlying cause of dystrophin expression by isolated fibres in Xp21 muscular dystrophy of Duchenne-type severity.
Journal of the neurological sciences - 1 Aug 1993
Wallgren-Pettersson C, Jasani B, Rosser L G, Lazarou L P, Nicholson L V, Clarke A
Abstract excerpt
Using five monoclonal antibodies against different parts of the dystrophin molecule, we have studied the dystrophin composition of 17 dystrophin-positive fibres in a muscle biopsy from a boy with Xp21 muscular dystrophy of Duchenne-type severity. The fibres showed five distinct, reproducible, imm...
Topics
- Antibodies, Monoclonal
- Bungarotoxins
- Child
- DNA
- Dystrophin
- Frameshift Mutation
- Humans
- Immunohistochemistry
- Male
- Muscles
- Muscular Dystrophies
- Mutation