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Article

A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study.

Neuromuscular disorders : NMD - 1 Apr 2007

Pénisson-Besnier Isabelle, Monnier Nicole, Toutain Annick, Dubas Frédéric, Laing Nigel

Abstract excerpt

The slow alpha-tropomyosin (TPM3) gene has to date been associated with few cases of both dominant and recessive nemaline myopathies. We report the identification of a p.Arg167His mutation in a four-generation family presenting with a mild classical form of the disease. Clinically, there was no correlation between the age at presentation and the severity of the disease. The dominant-negative p.Arg167His mutation...

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Source

Identifiers

PMID: 17376686
DOI: 10.1016/j.nmd.2007.01.017

Genes

TPM3

Variants

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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A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study.PMID 17376686Read ↗

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