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Small Molecules Which Improve Pathogenesis of Myotonic Dystrophy Type 1

18 May 2018

Abstract excerpt

Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy in adults for which there is currently no treatment. The pathogenesis of this autosomal dominant disorder is associated with the expansion of CTG repeats in the 3’-UTR of the DMPK gene. DMPK transcripts with expanded CUG repeats (CUGexpDMPK) are retained in the nucleus forming multiple discrete foci, and their presence triggers a cascade of...

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PMID: 29867749
DOI: 10.3389/fneur.2018.00349

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