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Article

Tackling the pathogenesis of RNA nuclear retention in myotonic dystrophy.

Biology of the cell - 23 Jul 2010

Mastroyiannopoulos Nikolas P, Shammas Christos, Phylactou Leonidas A

Abstract excerpt

DM1 (myotonic dystrophy type I) is a common form of muscular dystrophy that affects mainly adults. It is a disease that belongs to the group of defective RNA export diseases, since a major part of the pathogenic mechanism of the disease is the retention of the mutant transcripts in the cell nucleus. The presence of an expanded CUG trinucleotide repeat in the 3'-UTR (3'-untranslated region) of the DMPK (myotonic...

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Source

Identifiers

PMID: 20690904
DOI: 10.1042/BC20100040

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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