| First Author | Cox GA | Year | 1994 |
| Journal | Nat Genet | Volume | 8 |
| Issue | 4 | Pages | 333-9 |
| PubMed ID | 7894482 | Mgi Jnum | J:21841 |
| Mgi Id | MGI:69743 | Doi | 10.1038/ng1294-333 |
| Citation | Cox GA, et al. (1994) Dp71 can restore the dystrophin-associated glycoprotein complex in muscle but fails to prevent dystrophy [see comments]. Nat Genet 8(4):333-9 |
| abstractText | Two lines of transgenic mdx mice have been generated that express a 71 kD non-muscle isoform of dystrophin (Dp71) in skeletal muscle. This isoform contains the cysteine-rich and C-terminal domains of dystrophin, but lacks the N-terminal actin-binding and central spectrin-like repeat domains. Dp71 was associated with the sarcolemma membrane, where it restored normal expression and localization of all members of the dystrophin-associated glycoprotein complex. However, the skeletal muscle pathology of the transgenic mdx mice remained severe. These results indicate that the dystrophin C terminus cannot function independently to prevent dystrophic symptoms and confirms predictions based on patient data that both the N and C-terminal domains are required for normal dystrophin function. |
