Article
Prediction of dystrophin phenotype by DNA analysis in Duchenne/Becker muscular dystrophy.
Pediatric neurology - 1 Jan 2000
Specht L A, Beggs A H, Korf B, Kunkel L M, Shapiro F
Abstract excerpt
Allele-specific molecular diagnosis of Duchenne and Becker muscular dystrophies (DMD and BMD) has been largely dependent upon muscle biopsy for dystrophin protein assay. We performed lymphocyte DNA mutation analysis by polymerase chain reaction on 14 boys presenting with a clinical picture compatible with DMD or BMD. DNA analysis revealed that 12 of 14 boys had a deletion of the dystrophin gene, thus establishing...
Topics
- Biopsy
- Child
- Child, Preschool
- DNA
- DNA Mutational Analysis
- Dystrophin
- Humans
- Infant
- Male
- Muscles
- Muscular Dystrophies
- Phenotype