Article
[Genetic diagnosis of Duchenne/Becker muscular dystrophy; clinical application and problems].
No to hattatsu = Brain and development - 1 Mar 1998
Takeshima Y
Abstract excerpt
Duchenne/Becker muscular dystrophies (DMD/BMD) are the most common inherited muscular disease and caused by mutations in the dystrophin gene. A half to two-thirds of DMD and BMD patients carry deletions (usually of several kilobases of genomic DNA). The clinical progression in DMD and BMD patients with deletions can be predicted in 92% of cases based on whether the deletion maintains or disrupts the translational...
Topics
- DNA Mutational Analysis
- Dystrophin
- Heterozygote
- Humans
- Microsatellite Repeats
- Muscular Dystrophies
- Mutation
- RNA, Messenger