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Article

Molecular and Clinical Implications of Variant Repeats in Myotonic Dystrophy Type 1.

International journal of molecular sciences - 29 Dec 2021

Peric Stojan, Pesovic Jovan, Savic-Pavicevic Dusanka, Rakocevic Stojanovic Vidosava, Meola Giovanni

Abstract excerpt

Myotonic dystrophy type 1 (DM1) is one of the most variable monogenic diseases at phenotypic, genetic, and epigenetic level. The disease is multi-systemic with the age at onset ranging from birth to late age. The underlying mutation is an unstable expansion of CTG repeats in the DMPK gene, varying in size from 50 to >1000 repeats. Generally, large expansions are associated with an earlier age at onset....

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Source

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Identifiers

PMID: 35008780
DOI: 10.3390/ijms23010354
PMCID: PMC8745394

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

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Research trail→

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Molecular and Clinical Implications of Variant Repeats in Myotonic Dystrophy Type 1.PMID 35008780Read ↗

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

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

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

High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1Semantic proximity Read ↗

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

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

In Cis Effect of DMPK Expanded Alleles in Myotonic Dystrophy Type 1 Patients Carrying Variant Repeats at 5' and 3' Ends of the CTG Array.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 ↗

Myotonic dystrophy type 1 patient-derived iPSCs for the investigation of CTG repeat instabilitySemantic proximity Read ↗

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

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