Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.
Jacob M, Kölbel H, Harrer P, Kopajtich R, Munot P, Achleitner MT, Badmann S, Brugger M, Brunet T, Bonne G, Codina M, Ebner L, Eshraghi P, Eyring K, Farhat AS, Feichtinger RG, Graf E, Marcé-Grau A, Hahn A, Houlden H, Karimiani EG, Manel V, Mayerhanser K, Nectoux J, Nelson I, Phadke R, Prokisch H, Sadeghian S, Saparov A, Schänzer A, Schara-Schmidt U, Schmidt J, Schuler R, Sewry C, Shariati G, Slanz S, Smirnov D, Sukenik-Halevy R, Tajsharghi H, Toosi MB, Trujillano L, Weis J, Wilson LC, Ben Yaou R, Zamani M, Zech M, Zschüntzsch J, Kornak U, Goméz-Andrés D, Maroofian R, Winkelmann J, Roos A, Distelmaier F, Mayr JA, Wagner M.
Jacob M, et al. Among authors: wagner m.
Brain. 2025 Jun 11:awaf227. doi: 10.1093/brain/awaf227. Online ahead of print.
Brain. 2025.
PMID: 40497796