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Article

Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1.

European journal of human genetics : EJHG - 1 May 2015

Morales Fernando, Vásquez Melissa, Cuenca Patricia, Campos Domingo, Santamaría Carolina, Del Valle Gerardo, Brian Roberto, Sittenfeld Mauricio, Monckton Darren G

Abstract excerpt

Myotonic dystrophy type 1 (DM1) is caused by the expansion of an unstable CTG repeat (g.17294_17296(45_1000)) with more repeats associated with increased disease severity and reduced age at onset. Expanded disease-associated alleles are highly unstable in both the germline and soma. Germline instability is expansion biased, providing a molecular explanation for anticipation. Somatic instability is expansion...

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Identifiers

PMID: 25052313
DOI: 10.1038/ejhg.2014.138
PMCID: PMC4402617

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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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