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Article

Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene.

Journal of child neurology - 1 Apr 2015

Gajda Anna, Horváth Emese, Hortobágyi Tibor, Gergev Gyurgyinka, Szabó Hajnalka, Farkas Katalin, Nagy Nikoletta, Széll Márta, Sztriha László

Abstract excerpt

Nemaline myopathy is a type of the heterogeneous group of congenital myopathies. Generalized hypotonia, weakness, and delayed motor development are the main clinical features of the typical congenital form. Histopathology shows characteristic nemaline rods in the muscle biopsy. Mutations in at least 7 genes, including nebulin gene (NEB), proved to be responsible for this muscle disease. We present a boy with...

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Source

Identifiers

PMID: 24056153
DOI: 10.1177/0883073813494476

Genes

NEB

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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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