Inferring disease course from differential exon usage in the wide titinopathy spectrum.
Maria Francesca Di FeoAli OghabianElla NippalaMathias GautelHeinz JungbluthFrancesca ForzanoEdoardo MalfattiClaudia CastiglioniIlona KreyDavid Gomez AndresAngela F BradyMaria IasconeAnna CeredaLidia PezzaniDaniel Natera-de BenitoAndres Nascimiento OsorioBerta Estévez AriasSergei A KurbatovTania Attie-BitachSheela NampoothiriErin RyanMichelle MorrowSvetlana GorokhovaBrigitte ChabrolJuha SinisaloHeli TolppanenJohanna TolvaFrancina MunellJessica Camacho SorianoMaria Angeles Sanchez DuranMridul JohariHoma TajsharghiPeter HackmanBjarne UddMarco SavaresePublished in: Annals of clinical and translational neurology (2024)
This study demonstrates that exon usage provides valuable insights for a more exhaustive clinical interpretation of TTNtv; additionally, it may serve as a model for implementing personalized medicine in many other genetic diseases, since most genes undergo alternative splicing.