Article
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies.
American journal of human genetics - 1 Jul 1991
Beggs A H, Hoffman E P, Snyder J R, Arahata K, Specht L, Shapiro F, Angelini C, Sugita H, Kunkel L M
Abstract excerpt
Becker muscular dystrophy (BMD) often results from in-frame mutations of the dystrophin gene that allow production of an altered but partially functional protein. To address potential structure-function relationships for the various domains of dystrophin, we examined both the dystrophin gene and protein in 68 patients with abnormal dystrophin. Eighty-six percent of BMD patients with dystrophin of altered size...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Chromosome Deletion
- DNA
- Dystrophin
- Exons
- Genetic Variation
- Humans
- Male
- Middle Aged