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Article

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

European journal of human genetics : EJHG - 1 Nov 2025

Swinkels Hilde, Leferink Maike, Pennings Maartje, van der Sanden Bart, Gilissen Christian, Galbany Jordi Corominas, Kamsteeg Erik-Jan

Abstract excerpt

The size of non-pathogenic CTG repeats in the 3'UTR of the DMPK gene varies from 5-35, whereas repeats over 50 units are pathogenic. The Intermediate repeats of 36-50 are considered 'premutation', as they are present in individuals unaffected by myotonic dystrophy, but are prone to further enlargement into the pathogenic range upon transmission to offspring. In this study, we showed that CCGCTG interrupted...

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

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Source

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Identifiers

PMID: 40624398
DOI: 10.1038/s41431-025-01907-9
PMCID: PMC12583562

Genes

DMPK

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Interrupted CTG repeats in the 37-43 units size range in the 3'UTR of DMPK are common alleles.PMID 40624398Read ↗

Molecular and Clinical Implications of Variant Repeats in Myotonic Dystrophy Type 1.Semantic proximity Read ↗

Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions.Semantic proximity Read ↗

Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis.Semantic proximity Read ↗

Uninterrupted CCTG tracts in the myotonic dystrophy type 2 associated locus.Semantic proximity Read ↗

Identification and characterization of 5' CCG interruptions in complex DMPK expanded alleles.Semantic proximity Read ↗

De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1.Semantic proximity Read ↗

CCG interruptions are unstable and hypermethylated in DM1 patientsSemantic proximity Read ↗

Repeat Interruptions Modify Age at Onset in Myotonic Dystrophy Type 1 by Stabilizing DMPK Expansions in Somatic CellsSemantic proximity Read ↗

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

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

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

Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypesSemantic proximity Read ↗

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