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