Origin of the expansion mutation in myotonic dystrophy.

doi:10.1038/ng0593-72

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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 ha...

Topics

Alleles
Base Sequence
Biological Evolution
Chromosomes, Human, Pair 19
Fragile X Syndrome
Genetic Markers
Haplotypes
Humans
Incidence
Linkage Disequilibrium
Models, Genetic
Molecular Sequence Data
Muscular Atrophy, Spinal
Mutation
Myotonic Dystrophy
Polymorphism, Genetic
Repetitive Sequences, Nucleic Acid
Sequence Deletion

Source

Open in PubMed

Identifiers

PMID: 8513329
DOI: 10.1038/ng0593-72

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8513329-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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