Article
The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities.
Journal of neurology - 1 Feb 1993
Bushby K M, Gardner-Medwin D, Nicholson L V, Johnson M A, Haggerty I D, Cleghorn N J, Harris J B, Bhattacharya S S
Abstract excerpt
We have correlated a detailed clinical assessment of 67 patients with proven Becker muscular dystrophy with the results from genetic and protein analyses. There was an overall deletion frequency of 80%, rising to 92.6% in the large group of patients defined on clinical grounds as being of "typica...
Topics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Blotting, Western
- Child
- Child, Preschool
- Dystrophin
- Exons
- Gene Deletion
- Humans
- Immunohistochemistry
- Infant
- Intelligence Tests
- Male
- Middle Aged
- Muscular Dystrophies
- Phenotype