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Article

A Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype.

International journal of molecular sciences - 9 Nov 2023

Robaszkiewicz Katarzyna, Siatkowska Małgorzata, Wadman Renske I, Kamsteeg Erik-Jan, Chen Zhiyong, Merve Ashirwad, Parton Matthew, Bugiardini Enrico, de Bie Charlotte, Moraczewska Joanna

Abstract excerpt

A novel variant of unknown significance c.8A > G (p.Glu3Gly) in TPM3 was detected in two unrelated families. TPM3 encodes the transcript variant Tpm3.12 (NM_152263.4), the tropomyosin isoform specifically expressed in slow skeletal muscle fibers. The patients presented with slowly progressive muscle weakness associated with Achilles tendon contractures of early childhood onset. Histopathology revealed features...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38003336
DOI: 10.3390/ijms242216147
PMCID: PMC10671854

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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