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Article

Nebulin expression in patients with nemaline myopathy.

Neuromuscular disorders : NMD - 1 Mar 2001

Gurgel-Giannetti J, Reed U, Bang M L, Pelin K, Donner K, Marie S K, Carvalho M, Fireman M A, Zanoteli E, Oliveira A S, Zatz M, Wallgren-Pettersson C, Labeit S, Vainzof M

Abstract excerpt

Nemaline myopathy is a structural congenital myopathy which may show both autosomal dominant and autosomal recessive inheritance patterns. Mutations in three different genes have been identified as the cause of nemaline myopathy: the gene for slow alpha-tropomyosin 3 (TPM3) at 1q22-23, the nebulin gene (NEB) at 2q21.1-q22, and the actin gene (ACTA1) at 1q42. The typical autosomal recessive form appears to be the...

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Source

Identifiers

PMID: 11257471
DOI: 10.1016/s0960-8966(00)00177-2

Genes

ACTA1
NEB
TPM3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Nebulin expression in patients with nemaline myopathy.PMID 11257471Read ↗

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Nemaline myopathies: a current viewSemantic proximity Read ↗

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Nemaline myopathies.Semantic proximity Read ↗

Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function.Semantic proximity Read ↗

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Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy.Semantic proximity Read ↗

Clinical course correlates poorly with muscle pathology in nemaline myopathy.Semantic proximity Read ↗

Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.Semantic proximity Read ↗

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathySemantic proximity Read ↗

Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.Semantic proximity Read ↗

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