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Article

Nuclear RNA Foci in the Heart in Myotonic Dystrophy

28 Oct 2005

Abstract excerpt

The disease mechanism underlying myotonic dystrophy type 1 (DM1) pathogenesis in skeletal muscle may involve sequestration of RNA binding proteins in nuclear foci of expanded poly(CUG) RNA. Here we report evidence for a parallel mechanism in the heart. Accumulation of expanded poly(CUG) RNA in nuclear foci is associated with sequestration of muscleblind proteins and abnormal regulation of alternative splicing in...

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PMID: 16254211
DOI: 10.1161/01.res.0000193598.89753.e3

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