Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype

Six genes including POMT1, POMT2, POMGNT1, FKRP, Fukutin (FKTN) and LARGE encode proteins involved in the glycosylation of α-dystroglycan (α-DG). Abnormal glycosylation of α-DG is a common finding in Walker-Warburg syndrome (WWS), muscle-eye-brain disease (MEB), Fukuyama congenital muscular dystroph...

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Main Authors:	Yiş, Uluç (Author) , Uyanik, Gökhan (Author) , Bambul Heck, Pinar (Author) , Smitka, Martin (Author) , Nobel, Hannes (Author) , Ebinger, Friedrich (Author) , Dirik, Eray (Author) , Feng, Lucy (Author) , Kurul, Semra H. (Author) , Brocke, Katja (Author) , Unalp, Aycan (Author) , Özer, Erdener (Author) , Cakmakci, Handan (Author) , Sewry, Caroline (Author) , Cirak, Sebahattin (Author) , Muntoni, Francesco (Author) , Hehr, Ute (Author) , Morris-Rosendahl, Deborah J. (Author)
Format:	Article (Journal)
Language:	English
Published:	2011
In:	Neuromuscular disorders Year: 2011, Volume: 21, Issue: 1, Pages: 20-30
ISSN:	1873-2364
DOI:	10.1016/j.nmd.2010.08.007
Online Access:	Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.nmd.2010.08.007 Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S0960896610005961
Author Notes:	Uluc Yis, Gökhan Uyanik, Pinar Bambul Heck, Martin Smitka, Hannes Nobel, Friedrich Ebinger, Eray Dirik, Lucy Feng, Semra H. Kurul, Katja Brocke, Aycan Unalp, Erdener Özer, Handan Cakmakci, Caroline Sewry, Sebahattin Cirak, Francesco Muntoni, Ute Hehr, Deborah J. Morris-Rosendahl