Article
Titin copy number variations associated with dominant inherited phenotypes.
Journal of medical genetics - 21 Mar 2024
Perrin Aurélien, Métay Corinne, Savarese Marco, Ben Yaou Rabah, Demidov German, Nelson Isabelle, Solé Guilhem, Péréon Yann, Bertini Enrico Silvio, Fattori Fabiana, D'Amico Adele, Ricci Federica, Ginsberg Mira, Seferian Andreea, Boespflug-Tanguy Odile, Servais Laurent, Chapon Françoise, Lagrange Emmeline, Gaudon Karen, Bloch Adrien, Ghanem Robin, Guyant-Maréchal Lucie, Johari Mridul, Van Goethem Charles, Fardeau Michel, Morales Raul Juntas, Genetti Casie A, Marttila Minttu, Koenig Michel, Beggs Alan H, Udd Bjarne, Bonne Gisèle, Cossée Mireille
Abstract excerpt
BACKGROUND: Titinopathies are caused by mutations in the titin gene (TTN). Titin is the largest known human protein; its gene has the longest coding phase with 364 exons. Titinopathies are very complex neuromuscular pathologies due to the variable age of onset of symptoms, the great diversity of pathological and muscular impairment patterns (cardiac, skeletal muscle or mixed) and both autosomal dominant and...
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