Article
Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice.
Nature genetics - 1 Jul 1996
Jansen G, Groenen P J, Bächner D, Jap P H, Coerwinkel M, Oerlemans F, van den Broek W, Gohlsch B, Pette D, Plomp J J, Molenaar P C, Nederhoff M G, van Echteld C J, Dekker M, Berns A, Hameister H, Wieringa B
Abstract excerpt
Myotonic dystrophy (DM) is commonly associated with CTG repeat expansions within the gene for DM-protein kinase (DMPK). The effect of altered expression levels of DMPK, which is ubiquitously expressed in all muscle cell lineages during development, was examined by disrupting the endogenous Dmpk gene and overexpressing a normal human DMPK transgene in mice. Nullizygous (-/-) mice showed only inconsistent and minor...
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