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Article

Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2).

Journal of structural biology - 1 May 2010

Ottenheijm Coen A C, Hooijman Pleuni, DeChene Elizabeth T, Stienen Ger J, Beggs Alan H, Granzier Henk

Abstract excerpt

Nemaline myopathy (NM), the most common non-dystrophic congenital myopathy, is clinically characterized by muscle weakness. However, the mechanisms underlying this weakness are poorly understood. Here, we studied the contractile phenotype of skeletal muscle from NM patients with nebulin mutations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19944167
DOI: 10.1016/j.jsb.2009.11.013
PMCID: PMC2856782

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19944167-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2).PMID 19944167Read ↗

Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiencySemantic proximity Read ↗

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

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Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy.Semantic proximity Read ↗

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Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy.Semantic proximity Read ↗

Mutation-specific effects on thin filament length in thin filament myopathy.Semantic proximity Read ↗

Characterization of <i>NEB</i> mutations in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effectsSemantic proximity Read ↗

NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy.Semantic proximity Read ↗

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Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations.Semantic proximity Read ↗

Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effectsSemantic proximity Read ↗

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