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Article

An Overview of Alternative Splicing Defects Implicated in Myotonic Dystrophy Type I

22 Sept 2020

Abstract excerpt

Myotonic dystrophy type I (DM1) is the most common form of adult muscular dystrophy, caused by expansion of a CTG triplet repeat in the 3′ untranslated region (3′UTR) of the myotonic dystrophy protein kinase (DMPK) gene. The pathological CTG repeats result in protein trapping by expanded transcripts, a decreased DMPK translation and the disruption of the chromatin structure, affecting neighboring genes...

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PMID: 32971903
DOI: 10.3390/genes11091109

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