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Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy

1 Jan 2014

Abstract excerpt

Myotonic dystrophy (DM) of type 1 and 2 (DM1 and DM2) are inherited autosomal dominant diseases caused by dynamic and unstable expanded microsatellite sequences (CTG and CCTG, respectively) in the non-coding regions of the genes DMPK and ZNF9, respectively. These mutations result in the intranuclear accumulation of mutated transcripts and the mis-splicing of numerous transcripts. This so-called RNA gain of toxic...

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PMID: 24409116
DOI: 10.3389/fnmol.2013.00057

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