Article
Mutations in the sarcoglycan genes in patients with myopathy.
The New England journal of medicine - 27 Feb 1997
Duggan D J, Gorospe J R, Fanin M, Hoffman E P, Angelini C
Abstract excerpt
BACKGROUND: Some patients with autosomal recessive limb-girdle muscular dystrophy have mutations in the genes coding for the sarcoglycan proteins (alpha-, beta-, gamma-, and delta-sarcoglycan). To determine the frequency of sarcoglycan-gene mutations and the relation between the clinical features...
Topics
- Adolescent
- Adult
- Biopsy
- Child
- Cytoskeletal Proteins
- DNA Mutational Analysis
- Dystroglycans
- Humans
- Male
- Membrane Glycoproteins
- Muscle, Skeletal
- Muscular Dystrophies
- Mutation
- Myofibrils
- Neuromuscular Diseases
- Sarcoglycans