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Article

Unusual association of a unique CAG interruption in 5' of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism.

Human mutation - 1 Jul 2018

Tomé Stéphanie, Dandelot Elodie, Dogan Céline, Bertrand Alexis, Geneviève David, Péréon Yann, Simon Marie, Bonnefont Jean-Paul, Bassez Guillaume, Gourdon Geneviève

Abstract excerpt

Myotonic dystrophy type 1 (DM1) is a dominant multisystemic disorder associated with high variability of symptoms and anticipation. DM1 is caused by an unstable CTG repeat expansion that usually increases in successive generations and tissues. DM1 family pedigrees have shown that ∼90% and 10% of transmissions result in expansions and contractions of the CTG repeat, respectively. To date, the mechanisms of CTG...

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Identifiers

PMID: 29664219
DOI: 10.1002/humu.23531

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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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Research trail→

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Unusual association of a unique CAG interruption in 5' of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism.PMID 29664219Read ↗

CCG interruptions are unstable and hypermethylated in DM1 patientsSemantic 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 ↗

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

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

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

Replacement of the myotonic dystrophy type 1 CTG repeat with 'non-CTG repeat' insertions in specific tissues.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 ↗

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

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

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

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