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Article

The novel (TCTG)n motif in CNBP expanded alleles: composition, dynamics and genotype-phenotype correlation in Myotonic dystrophy type 2 (DM2).

Human genomics - 5 Apr 2026

Centofanti Federica, Visconti Virginia Veronica, D'Apice Maria Rosaria, Carlomagno Marco, Maestri Simone, Ciabini Dario, Bengala Mario, Marchionni Enrica, Frezza Erica, Massa Roberto, Petrucci Antonio, Lupidi Francesca, Pegoraro Elena, Siciliano Gabriele, Garibaldi Matteo, Origone Paola, Delledonne Massimo, Rossato Marzia, Botta Annalisa, Novelli Giuseppe

Abstract excerpt

Introduction. Myotonic dystrophy type 2 (DM2) is an autosomal dominant disorder caused by (CCTG)n repeat expansions in intron 1 of the CNBP gene. Recent evidence from long-read sequencing suggests these expansions may be more complex than previously recognized. Aim. To comprehensively characterize the composition, intergenerational dynamics, and clinical impact of novel (TCTG)n motifs within the CNBP expanded...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41937177
DOI: 10.1186/s40246-026-00954-7
PMCID: PMC13195993

Genes

CNBP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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