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Article

Individual-specific levels of CTG•CAG somatic instability are shared across multiple tissues in myotonic dystrophy type 1.

Human molecular genetics - 27 Jan 2023

Morales Fernando, Corrales Eyleen, Vásquez Melissa, Zhang Baili, Fernández Huberth, Alvarado Fernando, Cortés Sergio, Santamaría-Ulloa Carolina, Initiative-Mmdbdi Marigold Myotonic Dystrophy Biomarkers Discovery, Krahe Ralf, Monckton Darren G

Abstract excerpt

Myotonic dystrophy type 1 is a complex disease caused by a genetically unstable CTG repeat expansion in the 3'-untranslated region of the DMPK gene. Age-dependent, tissue-specific somatic instability has confounded genotype-phenotype associations, but growing evidence suggests that it also contributes directly toward disease progression. Using a well-characterized clinical cohort of DM1 patients from Costa Rica,...

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PMID: 36099027
DOI: 10.1093/hmg/ddac231

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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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Individual-specific levels of CTG•CAG somatic instability are shared across multiple tissues in myotonic dystrophy type 1.PMID 36099027Read ↗

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 ↗

Myotonic dystrophy type 1 (DM1) clinical subtypes and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent.Semantic proximity Read ↗

Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1.Semantic proximity Read ↗

Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1.Semantic proximity Read ↗

Overview of the Complex Relationship between Epigenetics Markers, CTG Repeat Instability and Symptoms 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 ↗

Molecular genetics and genetic testing in myotonic dystrophy type 1.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 ↗

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

DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies.Semantic proximity Read ↗

Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset.Semantic proximity Read ↗

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