Article
Deletions in the 5' region of dystrophin and resulting phenotypes.
Journal of medical genetics - 1 Nov 1994
Muntoni F, Gobbi P, Sewry C, Sherratt T, Taylor J, Sandhu S K, Abbs S, Roberts R, Hodgson S V, Bobrow M
Abstract excerpt
Deletions in the dystrophin gene give rise to both Duchenne and Becker muscular dystrophies. Good correlation is generally found between the severity of the phenotype and the effect of the deletion on the reading frame: deletions that disrupt the reading frame result in a severe phenotype, while in frame deletions are associated with a milder disease course. Rare exceptions to this rule, mainly owing to...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Chromosome Deletion
- Chromosome Mapping
- Dystrophin
- Exons
- Female
- Humans
- Infant
- Male