Inferring disease course from differential exon usage in the wide titinopathy spectrum.

doi:10.1002/acn3.52189

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Inferring disease course from differential exon usage in the wide titinopathy spectrum.

Annals of clinical and translational neurology - 1 Oct 2024

Di Feo Maria Francesca, Oghabian Ali, Nippala Ella, Gautel Mathias, Jungbluth Heinz, Forzano Francesca, Malfatti Edoardo, Castiglioni Claudia, Krey Ilona, Gomez Andres David, Brady Angela F, Iascone Maria, Cereda Anna, Pezzani Lidia, Natera De Benito Daniel, Nascimiento Osorio Andres, Estévez Arias Berta, Kurbatov Sergei A, Attie-Bitach Tania, Nampoothiri Sheela, Ryan Erin, Morrow Michelle, Gorokhova Svetlana, Chabrol Brigitte, Sinisalo Juha, Tolppanen Heli, Tolva Johanna, Munell Francina, Camacho Soriano Jessica, Sanchez Duran Maria Angeles, Johari Mridul, Tajsharghi Homa, Hackman Peter, Udd Bjarne, Savarese Marco

Abstract excerpt

OBJECTIVE: Biallelic titin truncating variants (TTNtv) have been associated with a wide phenotypic spectrum, ranging from complex prenatal muscle diseases with dysmorphic features to adult-onset limb-girdle muscular dystrophy, with or without cardiac involvement. Given the size and complexity of TTN, reaching an unequivocal molecular diagnosis and precise disease prognosis remains challenging. METHODS: In this...

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PMID: 39198997
DOI: 10.1002/acn3.52189
PMCID: PMC11514934

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