Myotonic dystrophy (DM) is an autosomal neuromuscular disease that encompasses two distinct forms, myotonic dystophy type 1 (DM1) and type 2 (DM2), which are caused by abnormal microsatellite expansions of CTG repeats in the 3’UTR of the DMPK gene and CCTG repeats in the first intron of ZNF9 gene, respectively. Mutant RNAs carrying expanded repeats are retained in the nucleus as discrete foci and expanded C(C)UG repeats abnormally interact with MBNL RNA-binding proteins. Sequestration of MBNL factors hampers its normal function in the regulation of alternative splicing events, thus several splicing changes in DM patients have been associated with clinical symptoms such as myotonia, muscle weakness, insulin resistance, cardiac and cognitive defects.

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