Article
Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy, with special reference to mental ability.
Neuromuscular disorders : NMD - 1 Jan 1992
Hodgson S V, Abbs S, Clark S, Manzur A, Heckmatt J Z, Dubowitz V, Bobrow M
Abstract excerpt
We report the results of screening for molecular deletions in 164 boys with DMD and BMD and correlation of deletions with clinical features. A deletion was detected in 100 cases (61%) by Southern blot hybridization analysis with cDNA probes. Thirty-eight different deletions and two duplications were identified. All deletions except one (deletion of exons 48-53) found in males with DMD disrupted the translational...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- DNA
- DNA Probes
- Dystrophin
- Exons
- Humans
- Infant
- Intellectual Disability
- Male