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Autor:
Lenka Hnykova, David Stejskal, Marie Trkova, Vera Krutilkova, Eva Hlavova, Vera Becvarova, Jana Hodacova, Jiri Horacek, Nada Jencikova, Dagmar Smetanová, Hana Hroncova
Publikováno v:
European journal of medical genetics. 58(8)
Walker-Warburg syndrome (WWS) is a rare form of autosomal recessive, congenital muscular dystrophy that is associated with brain and eye anomalies. Several genes encoding proteins involved in abnormal α-dystroglycan glycosylation have been implicate