Ontology highlight
ABSTRACT:
SUBMITTER: Lefeber DJ
PROVIDER: S-EPMC2706967 | biostudies-literature | 2009 Jul
REPOSITORIES: biostudies-literature
Lefeber Dirk J DJ Schönberger Johannes J Morava Eva E Guillard Mailys M Huyben Karin M KM Verrijp Kiek K Grafakou Olga O Evangeliou Athanasios A Preijers Frank W FW Manta Panagiota P Yildiz Jef J Grünewald Stephanie S Spilioti Martha M van den Elzen Christa C Klein Dominique D Hess Daniel D Ashida Hisashi H Hofsteenge Jan J Maeda Yusuke Y van den Heuvel Lambert L Lammens Martin M Lehle Ludwig L Wevers Ron A RA
American journal of human genetics 20090702 1
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 glycosylation defects. Here, we present a genetic N-glycosylation disorder with muscular dystrophy in the gro ...[more]