Deconstructing Myotonic Dystrophy
- 8 September 2000
- journal article
- editorial
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 289 (5485) , 1701-1702
- https://doi.org/10.1126/science.289.5485.1701
Abstract
Triplet repeat diseases are disorders in which there is expansion of a repeat sequence of three nucleotides in the affected gene. Although the pathology usually results from production of a defective protein, myotonic dystrophy (DM) has proved to be a puzzle because the expanded repeats appear in a non-coding region of the affected DMPK gene. In a Perspective, Tapscott explains how findings from a new mouse model of DM ( Mankodi et al.) could solve this paradox.Keywords
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