Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.

TitleDetection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.
Publication TypeJournal Article
AuthorsJohnson, K, Bertoli, M, Phillips, L, Topf, A, Van den Bergh, P, Vissing, J, Witting, N, Nafissi, S, Jamal-Omidi, S, Łusakowska, A, Kostera-Pruszczyk, A, Potulska-Chromik, A, Deconinck, N, Wallgren-Pettersson, C, Strang-Karlsson, S, Colomer, J, Claeys, KG, De Ridder, W, Baets, J, von der Hagen, M, Fernández-Torrón, R, Ijurco, MZulaica, Valencia, JBautista E, Hahn, A, Durmus, H, Willis, T, Xu, L, Valkanas, E, Mullen, TE, Lek, M, MacArthur, DG, Straub, V
PubMed ID30060766
PubMed Central IDPMC6066920
Grant ListUM1 HG008900 / HG / NHGRI NIH HHS / United States