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Article

Myopathies associated with β-tropomyosin mutations.

Neuromuscular disorders : NMD - 1 Nov 2012

Tajsharghi H, Ohlsson M, Palm L, Oldfors A

Abstract excerpt

Mutations in TPM2, encoding β-tropomyosin, have recently been found to cause a range of muscle disorders. We review the clinical and morphological expression of the previously reported mutations illustrating the heterogeneity of β-tropomyosin-associated diseases and describe an additional case with a novel mutation. The manifestations of mutations in TPM2 include non-specific congenital myopathy with type 1 fibre...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Myopathies, Nemaline

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Source

Identifiers

PMID: 22749895
DOI: 10.1016/j.nmd.2012.05.018

Genes

TPM2

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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