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  • Title: Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy.
    Author: Reddy S, Smith DB, Rich MM, Leferovich JM, Reilly P, Davis BM, Tran K, Rayburn H, Bronson R, Cros D, Balice-Gordon RJ, Housman D.
    Journal: Nat Genet; 1996 Jul; 13(3):325-35. PubMed ID: 8673132.
    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.
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