Convergent myotonic dystrophy (DM) haplotypes: potential inconsistencies in human disease gene localization.

doi:10.1159/000472295

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Article

Convergent myotonic dystrophy (DM) haplotypes: potential inconsistencies in human disease gene localization.

European journal of human genetics : EJHG - 1 Jan 1995

Whiting E J, Tsilfidis C, Surh L, MacKenzie A E, Korneluk R G

Abstract excerpt

Myotonic dystrophy (DM) is an autosomal dominant neuromuscular disease which has been shown to be caused by an unstable trinucleotide repeat located on chromosome 19q. We have conducted extensive haplotype analysis on 105 DM chromosomes using twelve 19q13.2 loci identifying 18 RFLPs, spanning a p...

Topics

Alleles
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 19
DNA Primers
Female
Gene Frequency
Haplotypes
Humans
Male
Minisatellite Repeats
Molecular Sequence Data
Mutation
Myotonic Dystrophy
Trinucleotide Repeats

Source

Open in PubMed

Identifiers

PMID: 7583045
DOI: 10.1159/000472295

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7583045-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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