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Letter

Nature Genetics 38, 1066–1070 (1 September 2006) | doi:10.1038/ng1857

Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy

Mani S Mahadevan , Ramesh S Yadava , Qing Yu , Sadguna Balijepalli , Carla D Frenzel-McCardell , T David Bourne & Lawrence H Phillips

Myotonic dystrophy (DM1), the most common muscular dystrophy in adults, is caused by an expanded (CTG)n tract in the 3|[prime]| UTR of the gene encoding myotonic dystrophy protein kinase (DMPK), which results in nuclear entrapment of the 'toxic' mutant RNA and interacting RNA-binding proteins (such as MBNL1) in ribonuclear inclusions. It is unclear if therapy aimed at eliminating the toxin would be beneficial.