Article
Sarcolemmal expression of dystrophin C-terminus but reduced expression of 6q-dystrophin-related protein in two DMD patients with large deletions of the dystrophin gene.
Neuromuscular disorders : NMD - 1 Mar 1995
Bittner R E, Shorny S, Ferlings R, Sperl W, Kress W, Müller C R, Cremer M, Léger J J, Voit T
Abstract excerpt
Partial deletions of the dystrophin gene are the predominant genetic lesions in Duchenne (DMD) and Becker (BMD) muscular dystrophies. According to the reading frame hypothesis [1], any deletion disrupting the translational reading frame of the mRNA cannot result in expression of the dystrophin molecule and should lead to severe phenotypes of DMD. In contrast, deletions which maintain the reading frame across the...
Topics
- Blotting, Western
- Child
- Child, Preschool
- Cytoskeletal Proteins
- DNA
- Dystrophin
- Exons
- Gene Deletion
- Gene Expression Regulation
- Humans
- Immunohistochemistry