Article
Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex.
Nature genetics - 1 Nov 1995
Bönnemann C G, Modi R, Noguchi S, Mizuno Y, Yoshida M, Gussoni E, McNally E M, Duggan D J, Angelini C, Hoffman E P
Abstract excerpt
The dystrophin associated proteins (DAPs) are good candidates for harboring primary mutations in the genetically heterogeneous autosomal recessive muscular dystrophies (ARMD). The transmembrane components of the DAPs can be separated into the dystroglycan and the sarcoglycan complexes. Here we re...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 4
- Cloning, Molecular
- Cytoskeletal Proteins
- DNA, Complementary
- Dystroglycans
- Female
- Genes, Recessive