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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 consequence of one or few ancestral mutations. A recent analysis utilizing this polymorphism as well as a flanking...

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PMID: 7909252
DOI: 10.1093/hmg/3.1.45

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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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High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation.PMID 7909252Read ↗

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Instability of normal (CTG)n alleles in the DM kinase gene.Semantic proximity Read ↗

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