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Article

Commitment to Myogenic Differentiation Significantly Aggravates the RNA Phenotype in Myotonic Dystrophy Type 1.

Neuropathology and applied neurobiology - 1 Apr 2026

Ripken Lise, van den Broek Walther J A A, van Cruchten Remco T P, Smits Jos G A, Riepe Tabea V, 't Hoen Peter A C, Wansink Derick G

Abstract excerpt

AIMS: Myotonic dystrophy type 1 (DM1) is a severe neuromuscular disorder classified as a spliceopathy, caused by a (CTG)n repeat expansion in the 3' UTR of the DMPK gene. The expansion in DMPK transcripts sequesters key splicing regulators of the MBNL family, leading to dysregulated alternative splicing. DM1 presents heterogeneous symptoms, with prevalent muscle weakness and myotonia, highlighting the need to...

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Share to Alternative Splicing
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Muscle Development

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Share to Myotonin-Protein Kinase

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Source

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Identifiers

PMID: 41848171
DOI: 10.1111/nan.70069
PMCID: PMC12997521

Genes

DMPK
MBNL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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