Article
Characterization of deletions in the dystrophin gene giving mild phenotypes.
American journal of medical genetics - 1 Sept 1990
Love D R, Flint T J, Marsden R F, Bloomfield J F, Daniels R J, Forrest S M, Gabrielli O, Giorgi P, Novelli G, Davies K E
Abstract excerpt
We have characterized deletions of the dystrophin gene in patients suffering from relatively mild muscular dystrophy. Our data show that most of the Becker muscular dystrophy (BMD) patients have intragenic deletions which leave the protein reading frame in phase. Remarkably, large deletions of the region corresponding to the central triple helical repeats in the protein can result in an exceptionally mild...
Topics
- Adrenal Glands
- Chromosome Deletion
- Chromosome Mapping
- Dystrophin
- Glycerol Kinase
- Humans
- Male
- Muscular Dystrophies
- Pedigree
- Phenotype