Article
Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).
Human molecular genetics - 1 Dec 1996
Bönnemann C G, Passos-Bueno M R, McNally E M, Vainzof M, de Sá Moreira E, Marie S K, Pavanello R C, Noguchi S, Ozawa E, Zatz M, Kunkel L M
Abstract excerpt
Autosomal recessive limb-girdle muscular dystrophies (LGMDs) are genetically heterogeneous. A subgroup of these disorders is caused by mutations in the dystrophin-associated sarcoglycan complex. Truncating mutations in the 43 kDa beta-sarcoglycan gene (LGMD 2E) were originally identified in a spo...
Topics
- Amino Acid Sequence
- Base Sequence
- Cytoskeletal Proteins
- Dystroglycans
- Exons
- Female
- Genome, Human
- Humans
- Male
- Membrane Glycoproteins
- Molecular Sequence Data
- Muscular Dystrophies
- Mutation
- Polymorphism, Genetic