Article
The clinical spectrum of sarcoglycanopathies.
Neurology - 1 Jan 1999
Angelini C, Fanin M, Freda M P, Duggan D J, Siciliano G, Hoffman E P
Abstract excerpt
A group of 204 muscular dystrophy patients were screened for immunohistochemical and biochemical alpha-sarcoglycan defect and their DNA was analyzed for pathogenetic mutation in the four sarcoglycan genes. We identified 21 patients with alpha-, beta-, or gamma-sarcoglycan gene mutations. Patients...
Topics
- Adolescent
- Adult
- Child
- Cytoskeletal Proteins
- Disease Progression
- Dystroglycans
- Female
- Genetic Testing
- Humans
- Male
- Membrane Glycoproteins
- Middle Aged
- Movement
- Muscular Dystrophies
- Mutation
- Neurologic Examination
- Phenotype
- Prognosis