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Article

Cap disease due to mutation of the beta-tropomyosin gene (TPM2).

Neuromuscular disorders : NMD - 1 May 2009

Clarke Nigel F, Domazetovska Ana, Waddell Leigh, Kornberg Andrew, McLean Catriona, North Kathryn N

Abstract excerpt

Cap disease or cap myopathy is a form of congenital myopathy in which peripheral, well-demarcated 'caps' of disorganised thin filaments are seen in muscle fibres. Mutation of the TPM2 gene, that encodes beta-tropomyosin, is the first reported genetic cause. In this paper, we describe a further case of cap disease due to a mutation in TPM2, confirming the importance of this genetic association. This is the first...

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Source

Identifiers

PMID: 19345583
DOI: 10.1016/j.nmd.2009.03.003

Genes

TPM2

Provenance

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.

Related research

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Cap disease due to mutation of the beta-tropomyosin gene (TPM2).PMID 19345583Read ↗

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Myopathies associated with β-tropomyosin mutations.Semantic proximity Read ↗

Novel TPM3 mutation in a family with cap myopathy and review of the literature.Semantic proximity Read ↗

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.Semantic proximity Read ↗

Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3.Semantic proximity Read ↗

Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in <i>TPM2</i>-related nemaline and cap myopathySemantic proximity Read ↗

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