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Reclassification of intragenic DMD gene duplications by optical genome mapping resolves uncertainty and improves clinical management.

Neuromuscular disorders : NMD - 1 Mar 2026

Seiwert Elizabeth Ulm, Shi Xinrui, Coyan Alyxis, Crawford Sarah, Husami Ammar, Tian Cuixia, Zygmunt Alex, Kushlaf Hani, Liu Jie, Nagaraj Chinmayee B

Abstract excerpt

Pathogenic copy number and sequence variants in the dystrophin (DMD) gene cause X-linked dystrophinopathies. Predicting the clinical consequences of intragenic DMD duplications is challenging because their functional impact depends on the physical location of the duplicated material, which cannot be determined through conventional testing. Optical genome mapping is a method of structural variant analysis that can...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41548515
DOI: 10.1016/j.nmd.2026.106335

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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