Over‐Representation of <i>TTN</i> Truncating Variants in a Finnish Cohort of Patients With Axial Myopathy
Heterozygous 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.
Authors
- Maria Francesca Di Feo (ORCID: https://orcid.org/0000-0002-4090-9521)
- B. Udd
- Johanna Palmio
- Manu Jokela
Institutions
- University of Helsinki (FI)
- University of Padua (IT)
- University of Turku (FI)
- Turku University Hospital (FI)
- Vaasa Central Hospital (FI)
- Tampere University Hospital (FI)
- Folkhälsans Forskningscentrum (FI)
- University of Genoa (IT)
Publication Details
- Journal
- European Journal of Neurology
- Published
- 2026-02-01
- DOI
- https://doi.org/10.1111/ene.70537
- Primary Topic
- Parkinson's Disease and Spinal Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Helsingin Yliopisto
- European Commission
- Suomen Kulttuurirahasto
- Samfundet Folkhälsan
- Tays
- HORIZON EUROPE Framework Programme