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Article

Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast differentiation but alter gene splicing in myotonic dystrophy type 2.

Neuromuscular disorders : NMD - 1 May 2009

Cardani Rosanna, Baldassa Simona, Botta Annalisa, Rinaldi Fabrizio, Novelli Giuseppe, Mancinelli Enzo, Meola Giovanni

Abstract excerpt

Myotonic dystrophy type 2 (DM2) is an autosomal dominant multisystemic disorder caused by a CCTG expansion in intron 1 of the zinc finger protein 9 gene on chromosome 3. Mutant transcripts are retained in muscle nuclei producing ribonuclear inclusions, which can bind specific RNA-binding proteins leading to a reduction in their activity. The nuclear sequestration of muscleblind-like proteins appears to be...

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Source

Identifiers

PMID: 19345584
DOI: 10.1016/j.nmd.2009.03.002

Genes

MBNL1

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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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Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast differentiation but alter gene splicing in myotonic dystrophy type 2.PMID 19345584Read ↗

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