Article
Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype.
Journal of the neurological sciences - 1 Oct 1993
Vainzof M, Passos-Bueno M R, Takata R I, Pavanello R de C, Zatz M
Abstract excerpt
In Duchenne muscular dystrophy, the progression of the disease is always severe and predictable, while in Becker dystrophy there is a wide variability (intra and inter familial) in the severity of the phenotype. We report here a family in which the proband, who is currently 15 years old, is showi...
Topics
- Adolescent
- Adult
- Blotting, Western
- Creatine Kinase
- Cytoskeletal Proteins
- DNA
- Dystrophin
- Family
- Female
- Fluorescent Antibody Technique
- Humans
- Immunohistochemistry
- Male
- Membrane Proteins
- Muscles
- Muscular Dystrophies
- Phenotype
- Polymerase Chain Reaction