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Article

Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2.

Annals of neurology - 1 Dec 2003

Mankodi Ami, Teng-Umnuay Patana, Krym Matt, Henderson Don, Swanson Maurice, Thornton Charles A

Abstract excerpt

Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are caused by genomic expansions of CTG or CCTG repeats. When transcribed, these mutations give rise to repeat expansion RNAs that form nuclear inclusions and compromise the function of myonuclei. Here, we have used in situ hybridization and immunofluorescence to compare DM1 and DM2 and search for proteins that associate with the RNA nuclear (ribonuclear)...

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Identifiers

PMID: 14681885
DOI: 10.1002/ana.10763

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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 in skeletal muscle in myotonic dystrophy types 1 and 2.PMID 14681885Read ↗

Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding proteinSemantic proximity Read ↗

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Short Tandem Repeat Expansions and RNA-Mediated Pathogenesis in Myotonic DystrophySemantic proximity Read ↗

(CTG)n repeat-mediated dysregulation of MBNL1 and MBNL2 expression during myogenesis in DM1 occurs already at the myoblast stageSemantic proximity Read ↗

Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts.Semantic proximity Read ↗

Regulation of Toxic RNA Foci and Mutant <i>DMPK</i> Transcripts: Role of MBNL Proteins and RNA Decay PathwaysSemantic proximity Read ↗

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The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patientsSemantic proximity Read ↗

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