Yis, Uluc ; Uyanik, Gökhan ; Heck, Pinar Bambul ; Smitka, Martin ; Nobel, Hannes ; Ebinger, Friedrich ; Dirik, Eray ; Feng, Lucy ; Kurul, Semra H. ; Brocke, Katja ; Unalp, Aycan ; Özer, Erdener ; Cakmakci, Handan ; Sewry, Caroline ; Cirak, Sebahattin ; Muntoni, Francesco ; Hehr, Ute ; Morris-Rosendahl, Deborah J. 
Zusammenfassung
Six genes including POMT1, POMT2, POMGNTI, FKRP, Fukutin (FKTN) and LARGE encode proteins involved in the glycosylation of alpha-dystroglycan (alpha-DG). Abnormal glycosylation of alpha-DG is a common finding in Walker-Warburg syndrome (WWS), muscle-eye brain disease (MEB), Fukuyama congenital muscular dystrophy (FCMD), congenital muscular dystrophy types 1C and ID and some forms of autosomal ...
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