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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 physical distance of 1.3 Mb containing the DM gene. Three major haplotypes (H1, H2 and H3) comprising 46.7% of the DM...

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Identifiers

PMID: 7583045
DOI: 10.1159/000472295

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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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