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Article

Effects of a R133W beta-tropomyosin mutation on regulation of muscle contraction in single human muscle fibres.

The Journal of physiology - 15 Jun 2007

Ochala Julien, Li Mingxin, Tajsharghi Homa, Kimber Eva, Tulinius Mar, Oldfors Anders, Larsson Lars

Abstract excerpt

A novel R133W beta-tropomyosin (beta-Tm) mutation, associated with muscle weakness and distal limb deformities, has recently been identified in a woman and her daughter. The muscle weakness was not accompanied by progressive muscle wasting or histopathological abnormalities in tibialis anterior muscle biopsy specimens. The aim of the present study was to explore the mechanisms underlying the impaired muscle...

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Identifiers

PMID: 17430991
DOI: 10.1113/jphysiol.2007.129759
PMCID: PMC2170843

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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