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| Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy |
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| Author(s): Reddy S, Smith DBJ, Rich MM, Leferovich JM, Reilly P, Davis BM, Tran K, Rayburn H, Bronson R, Cros D, BaliceGordon RJ, Housman D |
| Source: NATURE GENETICS Volume: 13 Issue: 3 Pages: 325-335 Published: JUL 1996 |
| Times Cited: 172 References: 78 |
| Abstract: 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. |
| Document Type: Article |
| Language: English |
Addresses:
1. MIT, CTR CANC RES, CAMBRIDGE, MA 02138 USA
2. UNIV PENN, SCH MED, DEPT NEUROSCI, PHILADELPHIA, PA 19104 USA
3. TUFTS UNIV, SCH MED, DEPT PATHOL, BOSTON, MA 02111 USA
4. TUFTS UNIV, SCH VET MED, BOSTON, MA 02111 USA
5. MASSACHUSETTS GEN HOSP, DEPT NEUROL, BOSTON, MA 02214 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: UU283 |
| ISSN: 1061-4036 |
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