Article
alpha-Sarcoglycan (adhalin) deficiency: complete deficiency patients are 5% of childhood-onset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations.
Journal of the neurological sciences - 1 Sept 1996
Duggan D J, Fanin M, Pegoraro E, Angelini C, Hoffman E P
Abstract excerpt
alpha-Sarcoglycan (adhalin), a 50-kDa component of the dystrophin-associated complex of proteins, participates in the stabilization of the myofiber plasma membrane in the membrane cytoskeleton. Deficiencies of alpha-sarcoglycan cause a subset of childhood-onset muscular dystrophy (SCARMD) cases....
Topics
- Base Sequence
- Cytoskeletal Proteins
- Dystrophin
- Humans
- Immunoblotting
- Membrane Glycoproteins
- Molecular Sequence Data
- Muscular Dystrophies
- Mutation
- RNA, Messenger
- Sarcoglycans