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<i>ABLIM1</i> splicing is abnormal in skeletal muscle of patients with <scp>DM</scp>1 and regulated by <scp>MBNL</scp>,<scp> CELF</scp> and <scp>PTBP</scp>1

18 Nov 2014

Abstract excerpt

Myotonic dystrophy type 1 (DM1) is an RNA-mediated disorder characterized by muscle weakness, cardiac defects and multiple symptoms and is caused by expanded CTG repeats within the 3' untranslated region of the DMPK gene. In this study, we found abnormal splicing of actin-binding LIM protein 1 (ABLIM1) in skeletal muscles of patients with DM1 and a DM1 mouse model (HSA(LR) ). An exon 11 inclusion isoform is...

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PMID: 25403273
DOI: 10.1111/gtc.12201

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<i>ABLIM1</i> splicing is abnormal in skeletal muscle of patients with <scp>DM</scp>1 and regulated by <scp>MBNL</scp>,<scp> CELF</scp> and <scp>PTBP</scp>1PMID 25403273Read ↗

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