PerspectiveBiomedicine

Deconstructing Myotonic Dystrophy

Science  08 Sep 2000:
Vol. 289, Issue 5485, pp. 1701-1702
DOI: 10.1126/science.289.5485.1701

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Summary

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.

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