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Article

A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features.

Journal of applied genetics - 1 May 2017

Mroczek Magdalena, Kabzińska Dagmara, Chrzanowska Krystyna H, Pronicki Maciej, Kochański Andrzej

Abstract excerpt

To date, only two splice-site mutations within the TPM2 gene have been shown to be causative for congenital myopathies. While the majority of TPM2 gene mutations are causative for nemaline myopathy, cap disease or distal arthrogryposis, some mutations in this gene have been found to be associated with non-specific congenital myopathy. We report on a patient with such an unspecified congenital myopathy associated...

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Identifiers

PMID: 27726070
DOI: 10.1007/s13353-016-0368-z
PMCID: PMC5391399

Genes

TPM2

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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