Article
Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern Europe.
European journal of neurology - 1 Nov 2025
Sian Veronica, Di Feo Maria Francesca, Kurbatov Sergei, Vihola Anna, Luque Helena, Konovalov Fedor, Peric Stojan, Duffy Cathrina, Kornblum Cornelia, Claeys Kristl G, Hackman Peter, Udd Bjarne, Savarese Marco
Abstract excerpt
BACKGROUND: Titin, the largest human protein, is essential for sarcomere structure and function. The TTN gene, spanning 364 exons, undergoes extensive alternative splicing thus producing multiple isoforms. The M-band region, encoded by exons 359-364, plays a critical role in sarcomere integrity and mechanical stability. Exon 363 is of interest due to its involvement in titinopathies. Pathogenic truncating...
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