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Article

Loss of muscleblind-like 1 results in cardiac pathology and persistence of embryonic splice isoforms.

Scientific reports - 12 Mar 2015

Dixon Donald M, Choi Jongkyu, El-Ghazali Ayea, Park Sun Young, Roos Kenneth P, Jordan Maria C, Fishbein Michael C, Comai Lucio, Reddy Sita

Abstract excerpt

Cardiac dysfunction is a prominent cause of mortality in myotonic dystrophy I (DM1), a disease where expanded CUG repeats bind and disable the muscleblind-like family of splice regulators. Deletion of muscleblind-like 1 (Mbnl1(ΔE2/ΔE2)) in 129 sv mice results in QRS, QTc widening, bundle block and STc narrowing at 2-4 months of age. With time, cardiac function deteriorates further and at 6 months, decreased R...

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Identifiers

PMID: 25761764
DOI: 10.1038/srep09042
PMCID: PMC4356957

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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