Article
Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy.
Nature genetics - 1 Jul 1996
Reddy S, Smith D B, Rich M M, Leferovich J M, Reilly P, Davis B M, Tran K, Rayburn H, Bronson R, Cros D, Balice-Gordon R J, Housman D
Abstract excerpt
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...
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