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Article

Phenotypic characterization of dominantly inherited distal nebulin myopathy.

Neuromuscular disorders : NMD - 1 May 2026

Henning Franclo, Naidu Kireshnee, Thomas Pearl, Schoeman Mardelle, Zaharie Dan, Patel Krutik, Dominik Natalia, Efthymiou Stephanie, Wilson Lindsay A, Hanna Michael G, Straub Volker, Sagath Lydia, Lehtokari Vilma-Lotta

Abstract excerpt

Nebulin is a large mammalian protein crucial for skeletal muscle sarcomere function. While NEB variants typically cause recessively inherited muscle disorders, a dominantly inherited distal myopathy due to a large multi-exon deletion in NEB was described in 2019 in a single family. We identified 6 unrelated South African families with dominantly inherited distal myopathy associated with a large heterozygous...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41886871
DOI: 10.1016/j.nmd.2026.106415

Genes

NEB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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