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Article

250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile-adult DM1.

Human mutation - 1 Feb 2002

Savić Dusanka, Rakocvic-Stojanovic Vidosava, Keckarevic Dusan, Culjkovic Biljana, Stojkovic Oliver, Mladenovic Jelena, Todorovic Slobodanka, Apostolski Slobodan, Romac Stanka

Abstract excerpt

Myotonic dystrophy type 1 (DM1) is associated with an expansion of CTG repeats in the 3'UTR of the DMPK gene. It is accepted, as in other trinucleotide diseases, that the number of the repeats is correlated with age at onset and severity of the disease. However, assessment of genotype-phenotype correlation in DM1 is complicated with the expansion-biased somatic instability of mutant alleles over time and...

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Source

Identifiers

PMID: 11793472
DOI: 10.1002/humu.10027

Genes

DMPK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile-adult DM1.PMID 11793472Read ↗

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