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Article

Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing.

eLife - 26 Aug 2022

Alfano Massimiliano, De Antoni Luca, Centofanti Federica, Visconti Virginia Veronica, Maestri Simone, Degli Esposti Chiara, Massa Roberto, D'Apice Maria Rosaria, Novelli Giuseppe, Delledonne Massimo, Botta Annalisa, Rossato Marzia

Abstract excerpt

Myotonic dystrophy type 2 (DM2) is caused by CCTG repeat expansions in the CNBP gene, comprising 75 to >11,000 units and featuring extensive mosaicism, making it challenging to sequence fully expanded alleles. To overcome these limitations, we used PCR-free Cas9-mediated nanopore sequencing to characterize CNBP repeat expansions at the single-nucleotide level in nine DM2 patients. The length of normal and...

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Identifiers

PMID: 36018009
DOI: 10.7554/eLife.80229
PMCID: PMC9462847

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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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