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Article

Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2).

Archives of neurology - 1 Sept 2007

Tajsharghi Homa, Ohlsson Monica, Lindberg Christopher, Oldfors Anders

Abstract excerpt

OBJECTIVE: To describe the clinical, morphologic, and genetic findings in a family in which one woman had nemaline myopathy, whereas her daughter showed features of cap disease. PATIENTS: A 66-year-old woman and her 35-year-old daughter had congenital, slowly progressive muscle weakness. They had weakness in both proximal and distal muscles and facial diplegia with bilateral ptosis, a long narrow face, a high...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17846275
DOI: 10.1001/archneur.64.9.1334

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.

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Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2).PMID 17846275Read ↗

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

A pathogenic mechanism associated with myopathies and structural birth defects involves TPM2-directed myogenesisSemantic proximity Read ↗

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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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