Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T. - 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; et al. (Brain: A Journal of Neurology, 2025)