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Article

Uninterrupted CCTG tracts in the myotonic dystrophy type 2 associated locus.

Neuromuscular disorders : NMD - 1 Jul 2013

Radvanszky Jan, Surovy Milan, Polak Emil, Kadasi Ludevit

Abstract excerpt

Myotonic dystrophy comprises at least two genetically distinct forms, DM1 and DM2. DM2 is caused by expansion of the (CCTG)n repeat tract in the CNBP gene. The CCTG tract is generally interrupted in healthy range alleles by GCTG, TCTG or ACTG motifs. However, alleles with uninterrupted tracts have been reported on expanded alleles, and occasionally on large-sized healthy range alleles. Therefore, these...

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Source

Identifiers

PMID: 23561036
DOI: 10.1016/j.nmd.2013.02.013

Genes

CNBP

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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