| First Author | Reddy S | Year | 1996 |
| Journal | Nat Genet | Volume | 13 |
| Issue | 3 | Pages | 325-35 |
| PubMed ID | 8673132 | Mgi Jnum | J:33714 |
| Mgi Id | MGI:81191 | Doi | 10.1038/ng0796-325 |
| Citation | Reddy S, et al. (1996) Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy [see comments]. Nat Genet 13(3):325-35 |
| abstractText | Myotonic dystrophy (DM) is an autosomal dominant disorder resulting from the expansion of a CTG repeat in the 3' untranslated region of a putative protein kinase (DMPK). To elucidate the role of DMPK in DM pathogenesis we have developed Dmpk deficient (Dmpk-/-) mice. Dmpk-/- mice develop a late-onset, progressive skeletal myopathy that shares some pathological features with DM. Muscles from mature mice show variation in fibre size, increased fibre degeneration and fibrosis. Adult Dmpk-/- mice show ultrastructural changes in muscle and a 50% decrease in force generation compared to young mice. Our results indicate that DMPK may be necessary for the maintenance of skeletal muscle structure and function and suggest that a decrease in DMPK levels may contribute to DM pathology. |
