Mice Lacking the Myotonic Dystrophy Protein Kinase Develop a Late Onset Progressive Myopathy
Document Type
Article
Publication Date
7-1-1996
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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.
Repository Citation
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.
(1996). Mice Lacking the Myotonic Dystrophy Protein Kinase Develop a Late Onset Progressive Myopathy. Nature Genetics, 13 (3), 325-335.
https://corescholar.libraries.wright.edu/cosm_ncbp/37
DOI
10.1038/ng0796-325
