Article
Dystrophin and DNA diagnosis in a large pediatric muscle clinic.
Journal of child neurology - 1 Apr 1994
Richards S, Iannaccone S T
Abstract excerpt
Eighty-seven unrelated patients from a large muscle clinic setting were analyzed by DNA for deletions in the dystrophin gene for diagnosis of Duchenne/Becker muscular dystrophy. The clinical phenotype of the patient population included 72% Duchenne, 13% Becker, and 15% outlier patients. Dystrophi...
Topics
- Adolescent
- Biopsy
- Child
- Child, Preschool
- Chromosome Deletion
- DNA
- DNA Probes
- Dystrophin
- Female
- Humans
- Male
- Muscles
- Muscular Dystrophies
- Neurologic Examination
- Phenotype
- Retrospective Studies