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A case of Walker–Warburg syndrome resulting from a homozygous POMT1 mutation

✍ Scribed by Uluç Yis; Gökhan Uyanik; Semra Kurul; Eray Dirik; Erdener Özer; Claudia Gross; Ute Hehr


Book ID
113590161
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
479 KB
Volume
11
Category
Article
ISSN
1090-3798

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The importance of O-glycosylation of alpha-dystroglycan (alpha-DG) is evident from the identification of POMT1 mutations in Walker-Warburg syndrome (WWS). Approximately one-fifth of the WWS patients show mutations in POMT1, which result in complete loss of protein mannosyltransferase activity. WWS p