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Article

French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion.

Journal of medical genetics - 1 Jan 1994

Lavedan C, Hofmann-Radvanyi H, Boileau C, Bonaïti-Pellié C, Savoy D, Shelbourne P, Duros C, Rabes J P, Dehaupas I, Luce S

Abstract excerpt

The molecular basis of myotonic dystrophy (DM) has been characterised. All DM mutations characterised to date appear as an unstable elongation of a fragment containing a tandem repeat of a CTG motif, which can be visualised in both EcoRI and BamHI digests. It has been shown that the fragment is polymorphic in the normal population. Another 1 kb insertion/deletion polymorphism located near the unstable CTG repeat...

Topics

Alleles
Chromosome Aberrations
DNA Probes
Gene Frequency
Haplotypes
Humans
Linkage Disequilibrium
Mutation
Myotonic Dystrophy
Repetitive Sequences, Nucleic Acid

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Identifiers

PMID: 8151634
DOI: 10.1136/jmg.31.1.33
PMCID: PMC1049595

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8151634-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion.PMID 8151634Read ↗

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene.Semantic proximity Read ↗

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