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Article

The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients

8 Jul 2008

Abstract excerpt

BACKGROUND: Myotonic dystrophy type 1 is caused by an unstable (CTG)n repetition located in the 3'UTR of the DM protein kinase gene (DMPK). Untranslated expanded DMPK transcripts are retained in ribonuclear foci which sequester CUG-binding proteins essential for the maturation of pre-mRNAs. AIM: To investigate the effects of CTG expansion length on three molecular parameters associated with the DM1 muscle...

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PMID: 18611984
DOI: 10.1136/jmg.2008.058909

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