ArticleEuropean journal of neurology2026
Over-Representation of TTN Truncating Variants in a Finnish Cohort of Patients With Axial Myopathy.
Article in European journal of neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Over-Representation of TTN Truncating Variants in a Finnish Cohort of Patients With Axial Myopathy.European journal of neurology · 2026Article
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Abstract
backgroundAxial myopathies present with late onset selective paravertebral weakness causing bent spine/camptocormia or dropped head, and the genetic basis remains currently only partially understood. Truncating variants in TTN (TTNtv) are found in about 1% of the general population and, when biallelic, cause recessive titinopathies. Also, TTNtv located in cardiac exons are known to confer an increased risk of cardiomyopathy, with incomplete penetrance.
methodsWe retrospectively analyzed 55 Finnish adults with late-onset axial myopathy evaluated at the Tampere Neuromuscular Center (2015-2025). Clinical, imaging, and histopathological data were collected, and genetic testing was performed using the MYOcap targeted next-generation sequencing panel.
resultsHeterozygous TTNtv were identified in 9 of 55 patients (16%), representing a significant enrichment compared with the general population (odds ratio = 14.1; p ≈5 × 10
conclusionsHeterozygous TTNtv are significantly enriched in patients with late-onset axial myopathy, suggesting a potential contribution to this phenotype. These findings broaden the clinical spectrum of titin-related diseases and support inclusion of TTN in genetic testing for idiopathic axial myopathies.
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