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Article

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

Human molecular genetics - 1 Aug 1993

Hofmann-Radvanyi H, Lavedan C, Rabès J P, Savoy D, Duros C, Johnson K, Junien C

Abstract excerpt

Myotonic dystrophy (DM) is an autosomal dominant neuromuscular disease. The mutation has been identified as an unstable trinucleotide CTG repeat in a sequence encoding a putative cAMP-dependent protein kinase. The CTG repeat varies in length between affected siblings, and generally increases through generations in parallel with increasing severity of the disease. Congenital myotonic dystrophy, which represents...

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PMID: 7691346
DOI: 10.1093/hmg/2.8.1263

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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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Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele.PMID 7691346Read ↗

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

Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype.Semantic proximity Read ↗

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

Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy.Semantic proximity Read ↗

A case of paternally inherited congenital myotonic dystrophy.Semantic 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 ↗

Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat.Semantic proximity Read ↗

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

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

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

Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: implications for genetic counselling and genetic anticipation.Semantic proximity Read ↗

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

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