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Article

Reduced cytoplasmic MBNL1 is an early event in a brain-specific mouse model of myotonic dystrophy

23 Mar 2017

Abstract excerpt

Myotonic dystrophy type 1 (DM1) is caused by an expansion of CTG repeats in the 3' untranslated region (UTR) of the dystrophia myotonia protein kinase (DMPK) gene. Cognitive impairment associated with structural change in the brain is prevalent in DM1. How this histopathological abnormality during disease progression develops remains elusive. Nuclear accumulation of mutant DMPK mRNA containing expanded CUG RNA...

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PMID: 28369378
DOI: 10.1093/hmg/ddx115

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