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Article

DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression.

Human molecular genetics - 1 Jun 2006

Margolis Jamie M, Schoser Benedikt G, Moseley Melinda L, Day John W, Ranum Laura P W

Abstract excerpt

Myotonic dystrophy type 2 (DM2) is caused by a CCTG expansion mutation in intron 1 of the zinc finger protein 9 (ZNF9) gene. The mean expansion size in patients is larger than for DM1 or any previously reported disorder (mean=5000 CCTGs; range=75-11 000), and similar to DM1, repeats containing ribonuclear inclusions accumulate in affected DM2 tissue. Although an RNA gain-of-function mechanism involving DM1 CUG or...

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PMID: 16624843
DOI: 10.1093/hmg/ddl103

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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.

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DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression.PMID 16624843Read ↗

Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2).Semantic proximity Read ↗

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A fly model for the CCUG-repeat expansion of myotonic dystrophy type 2 reveals a novel interaction with MBNL1.Semantic proximity Read ↗

(CTG)n repeat-mediated dysregulation of MBNL1 and MBNL2 expression during myogenesis in DM1 occurs already at the myoblast stageSemantic proximity Read ↗

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Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts.Semantic proximity Read ↗

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Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9.Semantic proximity Read ↗

The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patientsSemantic proximity Read ↗

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