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Article

Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3.

Neuromuscular disorders : NMD - 1 Jul 2010

Waddell Leigh B, Kreissl Michaela, Kornberg Andrew, Kennedy Paul, McLean Catriona, Labarre-Vila Annick, Monnier Nicole, North Kathryn N, Clarke Nigel F

Abstract excerpt

We report a third patient with typical cap myopathy due to a heterozygous TPM3 mutation, confirming the importance of this causal association. The p.R168C TPM3 mutation we identified has been reported in two previous patients. The histological changes associated with this mutation vary widely from typical cap myopathy with near complete type 1 predominance (two patients), to typical congenital fibre-type...

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Source

Identifiers

PMID: 20554445
DOI: 10.1016/j.nmd.2010.05.012

Genes

TPM3

Variants

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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Research trail→

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Mutations in <i>TPM3</i> are a common cause of congenital fiber type disproportionSemantic proximity Read ↗

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