Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy
Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy
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Switzerland: Frontiers Research Foundation
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Language
English
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Publisher
Switzerland: Frontiers Research Foundation
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Contents
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-s...
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Full title
Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy
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TN_cdi_doaj_primary_oai_doaj_org_article_17d5c8243a9f4beaa51ca8c3c490fa79
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_17d5c8243a9f4beaa51ca8c3c490fa79
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ISSN
1662-5099
E-ISSN
1662-5099
DOI
10.3389/fnmol.2013.00057
