Novel Mutations in <i>Titin</i> Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern Europe
This study expands the spectrum of TTN-related myopathies, emphasizing exon 363's pathogenic significance. Truncating exon 363 variants contribute to young onset recessive distal and sometimes early onset titinopathy with contractures, and the phenotype severity is influenced by the second variant's location and exon usage.
Authors
- Peter Hackman (ORCID: https://orcid.org/0000-0001-7890-5713)
- Veronica Sian (ORCID: https://orcid.org/0000-0002-8670-744X)
- Cornelia Kornblum (ORCID: https://orcid.org/0000-0002-0111-7281)
- H. Luque
- Kristl G. Claeys (ORCID: https://orcid.org/0000-0001-9937-443X)
- Cathrina Duffy
- Stojan Perić (ORCID: https://orcid.org/0000-0002-2979-556X)
- Fedor A. Konovalov (ORCID: https://orcid.org/0000-0001-6414-436X)
- Maria Francesca Di Feo (ORCID: https://orcid.org/0000-0002-4090-9521)
- Marco Savarese (ORCID: https://orcid.org/0000-0002-2591-244X)
- Anna Vihola (ORCID: https://orcid.org/0000-0001-9249-8480)
- С. В. Курбатов (ORCID: https://orcid.org/0000-0002-8886-5222)
- B. Udd
Institutions
- Allen Institute for Brain Science (US)
- University of Helsinki (FI)
- University Hospital Bonn (DE)
- Voronezh State Medical Academy named after N.N. Burdenko (RU)
- Helsinki University Hospital (FI)
- University of Belgrade (RS)
- Saratov State Medical University (RU)
- Tampere University Hospital (FI)
- Tampere University (FI)
- VIB-KU Leuven Center for Brain & Disease Research (BE)
- Folkhälsans Forskningscentrum (FI)
- Hospital District of Helsinki and Uusimaa (FI)
- University of Genoa (IT)
Publication Details
- Journal
- European Journal of Neurology
- Published
- 2025-11-01
- DOI
- https://doi.org/10.1111/ene.70433
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Helsingin Yliopisto
- European Commission
- Samfundet Folkhälsan
- Sigrid Juséliuksen Säätiö