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Article

Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat.

Human molecular genetics - 1 Aug 1999

Alwazzan M, Newman E, Hamshere M G, Brook J D

Abstract excerpt

Myotonic dystrophy is caused by the expansion of a CTG repeat sequence. The mechanism by which this expanded repeat produces the pathophysiology of myotonic dystrophy is not clear. It has been shown previously that expansion of the repeat produces allele-specific effects on transcripts from two genes, DMPK and SIX5. We have examined the effect of repeat expansion on the level of RNA from a third gene, DMWD. We...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10400997
DOI: 10.1093/hmg/8.8.1491

Genes

SIX5
DMPK

Provenance

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat.PMID 10400997Read ↗

Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression.Semantic proximity Read ↗

Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy.Semantic proximity Read ↗

Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genesSemantic proximity Read ↗

Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing.Semantic proximity Read ↗

Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP geneSemantic proximity Read ↗

Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHPSemantic proximity Read ↗

Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation.Semantic proximity Read ↗

Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytesSemantic 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 ↗

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

Somatic instability of CTG repeat in myotonic dystrophy.Semantic proximity Read ↗

Quercetin selectively reduces expanded repeat RNA levels in models of myotonic dystrophySemantic proximity Read ↗

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