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Article

Nebulin mutations in autosomal recessive nemaline myopathy: an update.

Neuromuscular disorders : NMD - 1 Oct 2002

Pelin Katarina, Donner Kati, Holmberg Maria, Jungbluth Heinz, Muntoni Francesco, Wallgren-Pettersson Carina

Abstract excerpt

We report mutational analysis of the last 42 exons of the nebulin gene (NEB) in 77 patients with various forms of nemaline myopathy. In addition to the previously described six mutations in five families, we identified 12 novel recessive mutations in 13 families. Affected individuals were homozygous for the mutations in five families and compound heterozygous in two, while in the remaining cases only one...

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Source

Identifiers

PMID: 12207938
DOI: 10.1016/s0960-8966(02)00066-4

Genes

NEB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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