Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T (2025) Foley, A Reghan; Bolduc, Véronique; Guirguis, Fady; Donkervoort, Sandra; Hu, Ying; Orbach, Rotem; McCarty, Riley M; Sarathy, Apurva; Norato, Gina; Cummings, Beryl B; Lek, Monkol; Sarkozy, Anna; Butterfield, Russell J; Kirschner, Janbernd; Nascimento, Andrés; Natera-de Benito, Daniel; Quijano-Roy, Susana; Stojkovic, Tanya; Merlini, Luciano; Comi, Giacomo; Ryan, Monique; McDonald, Denise; Munot, Pinki; Yoon, Grace; Leung, Edward; Finanger, Erika; Leach, Meganne E; Collins, James; Tian, Cuixia; Mohassel, Payam; Neuhaus, Sarah B; Saade, Dimah; Cocanougher, Benjamin T; Chu, Mary-Lynn; Scavina, Mena; Grosmann, Carla; Richardson, Randal; Kossak, Brian D; Gospe, Sidney M; Bhise, Vikram; Taurina, Gita; Lace, Baiba; Troncoso, Monica; Shohat, Mordechai; Shalata, Adel; Chan, Sophelia H S; Jokela, Manu; Palmio, Johanna; Haliloğlu, Göknur; Jou, Cristina; Gartioux, Corine; Solomon-Degefa, Herimela; Freiburg, Carolin D; Schiavinato, Alvise; Zhou, Haiyan; Aguti, Sara; Nevo, Yoram; Nishino, Ichizo; Jimenez-Mallebrera, Cecilia; Lamandé, Shireen R; Allamand, Valérie; Gualandi, Francesca; Ferlini, Alessandra; MacArthur, Daniel G; Wilton, Steve D; Wagener, Raimund; Bertini, Enrico; Muntoni, Francesco; Bönnemann, Carsten G
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