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

doi:10.1093/hmg/3.1.45

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Article

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

Human molecular genetics - 1 Jan 1994

Neville C E, Mahadevan M S, Barceló J M, Korneluk R G

Abstract excerpt

The mutation causing myotonic dystrophy (DM) has been identified as an amplification of an unstable trinucleotide (CTG)n repeat in over 99% of the global DM population. It is in complete linkage disequilibrium with an Alu element polymorphism within the DM kinase gene, suggesting that DM is a con...

Topics

Alleles
Base Sequence
DNA Primers
DNA Restriction Enzymes
Exons
Female
Fragile X Syndrome
Haplotypes
Humans
Introns
Male
Molecular Sequence Data
Mutation
Myotonic Dystrophy
Pedigree
Polymerase Chain Reaction
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length

Source

Open in PubMed

Identifiers

PMID: 7909252
DOI: 10.1093/hmg/3.1.45

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7909252-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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