Broad phenotypic spectrum of neuromuscular disorders associated with defective O-glycosylation of alpha-dystroglycan
U Hehr, G Uyanik, C Gross, G Schuierer, A Bohring, M Cohen, B Oehl-Jaschkowitz, L Bird, I Baric, MC Walter, D Mowat, U Bogdahn, H Lochmueller, H Topaloglu, J Winkler · Aktuelle Neurologie · 2007 · Heft 09
Bibliografische Angaben
Zusammenfassung
Aims: Defects in O-glycosylation of alpha-dystroglycan result in a group of autosomal recessive disorders with congenital muscular dystrophy (CMD) and brain and/or eye abnormalities. Muscle-eye-brain disease (MEB) is characterized by early onset muscular hypotonia, severely compromised motor development and mental retardation. MR imaging reveals a lissencephaly type II with hypoplasia of brain stem and cerebellum. MEB is caused by mutations in the human POMGnT1 gene. POMT1 and POMT2 mutations result in the more severe phenotype of Walker-Warburg syndrome (WWS). Recently, we could identify a distinct POMT1 missen…
