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Article

Origin of the expansion mutation in myotonic dystrophy.

Nature genetics - 1 May 1993

Imbert G, Kretz C, Johnson K, Mandel J L

Abstract excerpt

Myotonic dystrophy (DM) is caused by the expansion of a CTG trinucleotide repeat. The mutation is in complete linkage disequilibrium with a nearly two-allele insertion/deletion polymorphism, suggesting a single origin for the mutation or predisposing mutation. To trace this-ancestral event, we have studied the association of CTG repeat alleles in a normal population to alleles of the insertion/deletion...

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Identifiers

PMID: 8513329
DOI: 10.1038/ng0593-72

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

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