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Article

Clinical case report atypical myopathy in a young girl with 91 CTG repeats in DM1 locus and a positive DM1 family history.

The International journal of neuroscience - 1 Dec 2006

Savić Dusanka, Keckarević Dusan, Branković-Srećković Vesna, Apostolski Slobodan, Todorović Slobodanka, Romac Stanka

Abstract excerpt

Myotonic dystrophy type 1 (DM1) is an autosomal dominant inheritable disease associated with an expansion of CTG repeats in the 3' UTR of the DMPK gene. The subject is an 11-year-old girl with atypical myopathy. Because the proband's family has a positive DM1 history, a molecular-genetic analysis for DM1 was performed. This study showed that proband had a small DMPK expansion (91 CTG repeats) although the...

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Identifiers

PMID: 17145685
DOI: 10.1080/00207450600553182

Genes

DMPK

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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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