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Article

Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene.

Nature genetics - 1 Jul 1993

Sabouri L A, Mahadevan M S, Narang M, Lee D S, Surh L C, Korneluk R G

Abstract excerpt

Myotonic dystrophy (DM) results from the amplification of an unstable CTG repeat in the 3' untranslated region of a transcript encoding a putative serine/threonine kinase. We have analysed the amplification of the repeat and the steady state levels of the DM kinase (DMK) mRNA in tissues and cell lines from normal and congenital DM individuals. Southern blot analysis of DNA samples from a severely affected neonate...

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PMID: 8358430
DOI: 10.1038/ng0793-233

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene.PMID 8358430Read ↗

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

Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele.Semantic proximity Read ↗

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

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

High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation.Semantic proximity Read ↗

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

CTG repeat number in the nonaffected allele of myotonic dystrophy patients is not critical for disease expression.Semantic proximity Read ↗

[Molecular genetics of myotonic dystrophy].Semantic proximity Read ↗

Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice.Semantic proximity Read ↗

Coexpression of the CUG-binding protein reduces DM protein kinase expression in COS cells.Semantic proximity Read ↗

CTG repeat instability in a human embryonic stem cell line carrying the myotonic dystrophy type 1 mutation.Semantic proximity Read ↗

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