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Article

Mutagenic stress modulates the dynamics of CTG repeat instability associated with myotonic dystrophy type 1.

Nucleic acids research - 1 Dec 2003

Piñeiro Elisabeth, Fernàndez-López Laura, Gamez Josep, Marcos Ricard, Surrallés Jordi, Velázquez Antonia

Abstract excerpt

The molecular basis of the myotonic dystrophy type 1 is the expansion of a CTG repeat at the DMPK locus. The expanded disease-associated repeats are unstable in both somatic and germ lines, with a high tendency towards expansion. The rate of expansion is directly related to the size of the pathogenic allele, increasing the size heterogeneity with age. It has also been suggested that additional factors, including...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 14627806
DOI: 10.1093/nar/gkg898
PMCID: PMC290266

Genes

DMPK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutagenic stress modulates the dynamics of CTG repeat instability associated with myotonic dystrophy type 1.PMID 14627806Read ↗

"Mitotic drive" of expanded CTG repeats in myotonic dystrophy type 1 (DM1).Semantic proximity Read ↗

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

Overview of the Complex Relationship between Epigenetics Markers, CTG Repeat Instability and Symptoms in Myotonic Dystrophy Type 1.Semantic proximity Read ↗

Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity.Semantic proximity Read ↗

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.Semantic proximity Read ↗

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