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Article

Further evidence for a major ancient mutation underlying myotonic dystrophy from linkage disequilibrium studies in the Japanese population.

Journal of human genetics - 1 Jan 1998

Yamagata H, Nakagawa M, Johnson K, Miki T

Abstract excerpt

The myotonic dystrophy (DM) mutation is an unstable (CTG)n repeat, present at a copy number of 5-37 repeats on normal chromosomes but amplified to 50-3000 copies on DM chromosomes. Previous findings in Caucasian populations of a DM founder chromosome raise a question about the molecular events in...

Topics

Adult
Asian People
Female
Gene Frequency
Genotype
Haplotypes
Humans
Japan
Linkage Disequilibrium
Male
Mutation
Myotonic Dystrophy
Myotonin-Protein Kinase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Genetic

Protein Serine-Threonine Kinases

Repetitive Sequences, Nucleic Acid

Source

Identifiers

PMID: 9852676
DOI: 10.1007/s100380050082

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9852676-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Further evidence for a major ancient mutation underlying myotonic dystrophy from linkage disequilibrium studies in the Japanese population.PMID 9852676Read ↗

[Molecular genetics of myotonic dystrophy].Semantic proximity Read ↗

Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract.Semantic proximity Read ↗

Characteristics of dynamic mutation in Japanese myotonic dystrophy.Semantic proximity Read ↗

Origin of the expansion mutation in myotonic dystrophy.Semantic proximity Read ↗

[Molecular genetics of myotonic dystrophy--population genetics of the CTG repeat expansion of the MTPK gene].Semantic proximity Read ↗

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

Association of CTG repeats and the 1-kb Alu insertion/deletion polymorphism at the myotonin protein kinase gene in the Japanese population suggests a common Eurasian origin of the myotonic dystrophy mutation.Semantic proximity Read ↗

Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations.Semantic proximity Read ↗

Haplotype analysis of the myotonic dystrophy type 1 (DM1) locus in the Korean population.Semantic proximity Read ↗

Premutation allele pool in myotonic dystrophy type 2.Semantic proximity Read ↗

Delineation of CTG repeats and clinical features in a Taiwanese myotonic dystrophy family.Semantic proximity Read ↗

Replacement of the myotonic dystrophy type 1 CTG repeat with 'non-CTG repeat' insertions in specific tissues.Semantic proximity Read ↗

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