Dominov, Janice A.; Uyan, Özgün; McKenna-Yasek, Diane; Nallamilli, Babi Ramesh Reddy; Kergourlay, Virginie; Bartoli, Marc; Levy, Nicolas; Hudson, Judith; Evangelista, Teresinha; Lochmüller, Hanns; Krahn, Martin; Rufibach, Laura; Hegde, Madhuri; Brown, Robert H.
(Wiley, 2019)
Objective: Dysferlin is a large transmembrane protein that functions in critical processes of membrane repair and vesicle fusion. Dysferlin-deficiency due to mutations in the dysferlin gene leads to muscular dystrophy ...
