Lefeber, Dirk J. ; Schönberger, Johannes ; Morava, Eva ; Guillard, Mailys ; Huyben, Karin M. ; Verrijp, Kiek ; Grafakou, Olga ; Evangeliou, Athanasios ; Preijers, Frank W. ; Manta, Panagiota ; Yildiz, Jef ; Grünewald, Stephanie ; Spilioti, Martha ; van den Elzen, Christa ; Klein, Dominique ; Hess, Daniel ; Ashida, Hisashi 
; Hofsteenge, Jan ; Maeda, Yusuke ; van den Heuvel, Lambert ; Lammens, Martin ; Lehle, Ludwig ; Wevers, Ron A.
; Hofsteenge, Jan ; Maeda, Yusuke ; van den Heuvel, Lambert ; Lammens, Martin ; Lehle, Ludwig ; Wevers, Ron A. 
Zusammenfassung
Alpha-dystroglycanopathies such as Walker Warburg syndrome represent an important subgroup of the muscular dystrophies that have been related to defective O-mannosylation of alpha-dystroglycan. In many patients, the underlying genetic etiology remains unsolved. Isolated muscular dystrophy has not been described in the congenital disorders of glycosylation (CDG) caused by N-linked protein ...
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