Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

doi:10.1038/s41431-025-01891-0

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Article

Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

European journal of human genetics : EJHG - 1 Sept 2025

Sagath Lydia, Kiiski Kirsi, Naidu Kireshnee, Patel Krutik, Jonson Per Harald, Laarne Milla, Djordjevic Djurdja, Yoon Grace, LaGroon Anna, Rogers Curtis, Galindo Maureen Kelly, Scherer Katalin, Kunstmann Erdmute, Koparir Erkan, Ho Desirée, Davis Mark, Joshi Purwa, Zygmunt Alexander, Orbach Rotem, Donkervoort Sandra, Bönnemann Carsten G, Savarese Marco, Echaniz-Laguna Andoni, Biancalana Valérie, Genetti Casie A, Iannaccone Susan T, Beggs Alan H, Wallgren-Pettersson Carina, Henning Franclo, Pelin Katarina, Lehtokari Vilma-Lotta

Abstract excerpt

Structural variants (SVs) of the nebulin gene (NEB), including intragenic duplications, deletions, and copy number variation of the triplicate region, are an established cause of recessively inherited nemaline myopathies and related neuromuscular disorders. Large deletions have been shown to cause dominantly inherited distal myopathies. Here we provide an overview of 35 families with muscle disorders caused by...

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PMID: 40517164
DOI: 10.1038/s41431-025-01891-0
PMCID: PMC12402328

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