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-on...
Topics
- Animals
- Electromyography
- Female
- Homozygote
- Humans
- Mice
- Mice, Inbred C57BL
- Mice, Transgenic
- Muscle Fatigue
- Muscle Fibers, Skeletal
- Muscle, Skeletal
- Mutation