Abstract

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 had trismus, whilst in one patient, the distal joints of her fingers flexed on extension of the wrists. In one biopsy from a patient with a rare TPM3 pathogenic variant, cores and minicores were observed, an unusual finding in TPM3-caused myopathy. The variants alter conserved contact sites between tropomyosin and actin.

Original languageEnglish
JournalNeuromuscular Disorders
Volume35
Pages (from-to)29-32
Number of pages4
ISSN0960-8966
DOIs
Publication statusPublished - Feb 2024
MoE publication typeA1 Journal article-refereed

Bibliographical note

Publisher Copyright:
© 2023

Fields of Science

  • Congenital myopathy
  • Muscle hypertonia
  • TPM2
  • TPM3
  • Trismus
  • Tropomyosin
  • 3112 Neurosciences

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