Article
Dystrophin as a diagnostic marker in Duchenne and Becker muscular dystrophy. Correlation of immunofluorescence and western blot.
Neuropediatrics - 1 Aug 1991
Voit T, Stuettgen P, Cremer M, Goebel H H
Abstract excerpt
Dystrophin is the gene product of the Duchenne (DMD) and Becker (BMD) muscular dystrophy gene locus on the short arm of the X chromosome. Complete lack of dystrophin is pathognomonic for DMD and variable changes of the molecule may be observed in the milder allelic form of BMD. In the present stu...
Topics
- Adolescent
- Blotting, Western
- Child
- Child, Preschool
- Dystrophin
- Female
- Fluorescent Antibody Technique
- Genetic Carrier Screening
- Humans
- Infant
- Male
- Muscular Dystrophies