Abstract
Introduction: Dystroglycan has a central position in the cytoskeleton. Until now, defective dystroglycan is induced by disturbance of O-glycosylation of α dystroglycan with a broad clinical spectrum of dystroglycanopathies. Muscle-eye-brain (MEB) disease and Walker-Warburg syndrome are the most severe course. A primary dystroglycanpathies with a mutation in the encoding gene DAK1 was described in only one patient before.
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