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Article

Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1.

European journal of human genetics : EJHG - 1 Jun 2000

Martorell L, Monckton D G, Gamez J, Baiget M

Abstract excerpt

The genetic basis of myotonic dystrophy type 1 (DM1) is the expansion of a CTG repeat in the 3' untranslated region of DM1PK. Once into the disease range, the repeat becomes highly unstable and is biased toward expansion in both somatic and germline tissues. Intergenerational differences usually reveal an increase in allele length, concordant with the clinical anticipation characteristic of DM1, but there have...

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Source

Identifiers

PMID: 10878662
DOI: 10.1038/sj.ejhg.5200478

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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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