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Article

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

Human molecular genetics - 29 Aug 2020

Morales Fernando, Vásquez Melissa, Corrales Eyleen, Vindas-Smith Rebeca, Santamaría-Ulloa Carolina, Zhang Baili, Sirito Mario, Estecio Marcos R, Krahe Ralf, Monckton Darren G

Abstract excerpt

In myotonic dystrophy type 1 (DM1), somatic mosaicism of the (CTG)n repeat expansion is age-dependent, tissue-specific and expansion-biased. These features contribute toward variation in disease severity and confound genotype-to-phenotype analyses. To investigate how the (CTG)n repeat expansion changes over time, we collected three longitudinal blood DNA samples separated by 8-15 years and used small pool and...

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PMID: 32601694
DOI: 10.1093/hmg/ddaa123

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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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Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset.PMID 32601694Read ↗

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