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Article

Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.

Neuromuscular disorders : NMD - 1 Feb 2024

Wallgren-Pettersson Carina, Jokela Manu, Lehtokari Vilma-Lotta, Tyynismaa Henna, Sainio Markus T, Ylikallio Emil, Tynninen Olli, Pelin Katarina, Auranen Mari

Abstract excerpt

Patients with myopathies caused by pathogenic variants in tropomyosin genes TPM2 and TPM3 usually have muscle hypotonia and weakness, their muscle biopsies often showing fibre size disproportion and nemaline bodies. Here, we describe a series of patients with hypercontractile molecular phenotypes, high muscle tone, and mostly non-specific myopathic biopsy findings without nemaline bodies. Three of the patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38219297
DOI: 10.1016/j.nmd.2023.12.006

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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