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Article

Phenotypes of myopathy-related beta-tropomyosin mutants in human and mouse tissue cultures.

PloS one - 1 Jan 2013

Abdul-Hussein Saba, Rahl Karin, Moslemi Ali-Reza, Tajsharghi Homa

Abstract excerpt

Mutations in TPM2 result in a variety of myopathies characterised by variable clinical and morphological features. We used human and mouse cultured cells to study the effects of β-TM mutants. The mutants induced a range of phenotypes in human myoblasts, which generally changed upon differentiation to myotubes. Human myotubes transfected with the E41K-β-TM(EGFP) mutant showed perinuclear aggregates. The...

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Source

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Identifiers

PMID: 24039757
DOI: 10.1371/journal.pone.0072396
PMCID: PMC3769345

Genes

TPM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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