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Article

Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy.

Neuromuscular disorders : NMD - 1 Apr 2014

Citirak Gülsenay, Witting Nanna, Duno Morten, Werlauff Ulla, Petri Helle, Vissing John

Abstract excerpt

Congenital myopathies are difficult to classify correctly through molecular testing due to the size and heterogeneity of the genes involved. Therefore, the prevalence of the various genetic causes of congenital myopathies is largely unknown. In our cohort of 94 patients with congenital myopathy, two related female patients and two sporadic, male patients were found to carry mutations in the tropomyosin 2 (TPM2)...

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Source

Identifiers

PMID: 24507666
DOI: 10.1016/j.nmd.2013.12.008

Genes

TPM2
TPM3

Variants

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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