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Article

Compound loss of muscleblind‐like function in myotonic dystrophy

8 Oct 2013

Abstract excerpt

Myotonic dystrophy (DM) is a multi-systemic disease that impacts cardiac and skeletal muscle as well as the central nervous system (CNS). DM is unusual because it is an RNA-mediated disorder due to the expression of toxic microsatellite expansion RNAs that alter the activities of RNA processing factors, including the muscleblind-like (MBNL) proteins. While these mutant RNAs inhibit MBNL1 splicing activity in...

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PMID: 24293317
DOI: 10.1002/emmm.201303275

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