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Article

Variation of CTG-repeat number of the DMPK gene in muscle tissue.

Neuromuscular disorders : NMD - 1 May 1997

Ansved T, Edström L, Grandell U, Hedberg B, Anvret M

Abstract excerpt

Myotonic dystrophy (DM) is associated with an unstable expansion of CTG repeats located in the 3' untranslated region of a protein kinase-encoding gene (DMPK) on chromosome 19 (19q13.3). The CTG repeat number varies between 5 and 37 in lymphocytes of normal individuals, whereas DM patients may have expansions from 50 to several thousand copies. Although the CTG expansions related to myotonic dystrophy (DM) are...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9185177
DOI: 10.1016/s0960-8966(97)00443-4

Genes

DMPK

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

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Variation of CTG-repeat number of the DMPK gene in muscle tissue.PMID 9185177Read ↗

Normal variation at the myotonic dystrophy locus in global human populations.Semantic proximity Read ↗

Myotonic dystrophy phenotype without expansion of (CTG)n repeat: an entity distinct from proximal myotonic myopathy (PROMM)?Semantic proximity Read ↗

Genotype-phenotype correlation in myotonic dystrophy.Semantic proximity Read ↗

Correlations between individual clinical manifestations and CTG repeat amplification 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 ↗

Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytesSemantic proximity Read ↗

Distribution of CTG repeats at the DMPK gene in myotonic dystrophy patients and healthy individuals from the Mexican population.Semantic proximity Read ↗

Interrupted CTG repeats in the 37-43 units size range in the 3'UTR of DMPK are common alleles.Semantic proximity Read ↗

Somatic instability of CTG repeat in myotonic dystrophy.Semantic proximity Read ↗

CTG repeat polymorphism in DMPK gene in healthy Yugoslav population.Semantic proximity Read ↗

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

A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeatSemantic proximity Read ↗

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