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Article

Dystrophia myotonia: why focus on foci?

European journal of human genetics : EJHG - 1 May 2009

Junghans R P

Abstract excerpt

Dystrophia myotonia type 1 (DM1; Steinert's disease; myotonic dystrophy) is an autosomal dominant disorder due to a large CTG expansion in the 3'-untranslated region (UTR) of the DM protein kinase (DMPK) gene. Transcription of this gene yields a long CUGn-containing mutant (mut) RNA, in which clinical disease is associated with repeats of n=100-5000. Phenomenologically, the expression of mut RNA is correlated...

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Source

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Identifiers

PMID: 19172994
DOI: 10.1038/ejhg.2008.227
PMCID: PMC2986259

Genes

DMPK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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