Article
Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype?
Human molecular genetics - 1 Jan 1993
Vainzof M, Takata R I, Passos-Bueno M R, Pavanello R C, Zatz M
Abstract excerpt
The severe Duchenne muscular dystrophy (DMD) and the more benign Becker type (BMD) are allelic conditions, controlled by a defective gene at Xp21, caused by the absence (DMD) or a defect in quantity or quality (BMD) of the protein dystrophin. It has been suggested that the C-terminus domain of dy...
Topics
- Adolescent
- Alleles
- Blotting, Western
- Child, Preschool
- DNA
- Dystrophin
- Fluorescent Antibody Technique
- Humans
- Male
- Muscles
- Muscular Dystrophies
- Phenotype
