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Article

Alternative splicing of myomesin 1 gene is aberrantly regulated in myotonic dystrophy type 1.

Genes to cells : devoted to molecular & cellular mechanisms - 1 Sept 2011

Koebis Michinori, Ohsawa Natsumi, Kino Yoshihiro, Sasagawa Noboru, Nishino Ichizo, Ishiura Shoichi

Abstract excerpt

Myotonic dystrophy type 1 (DM1) is a multisystemic disease caused by a CTG repeat expansion in the 3'-UTR of dystrophia myotonica-protein kinase. Aberrant regulation of alternative splicing is a characteristic feature of DM. Dozens of genes have been found to be abnormally spliced; however, few reported splicing abnormalities explain the phenotypes of DM1 patients. Thus, we hypothesized that other, unknown...

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Source

Identifiers

PMID: 21794030
DOI: 10.1111/j.1365-2443.2011.01542.x

Genes

MYOM1
CELF1
MBNL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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Alternative splicing of myomesin 1 gene is aberrantly regulated in myotonic dystrophy type 1.PMID 21794030Read ↗

An Overview of Alternative Splicing Defects Implicated in Myotonic Dystrophy Type ISemantic proximity Read ↗

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