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Walker-Warburg Syndrome: Genetic Heterogeneity Converging at the Abnormal Glycosylation of Alpha-Dystroglycan 

Walker-Warburg Syndrome: Genetic Heterogeneity Converging at the Abnormal Glycosylation of Alpha-Dystroglycan
Chapter:
Walker-Warburg Syndrome: Genetic Heterogeneity Converging at the Abnormal Glycosylation of Alpha-Dystroglycan
Author(s):

Moniek Riemersma

, Dirk J. Lefeber

, and Hans Van Bokhoven

DOI:
10.1093/med/9780199934522.003.0206
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date: 08 March 2021

Impaired post-translation modification of alpha-dystroglycan (α‎DG) is the hallmark of Walker-Warburg syndrome (WWS), a rare recessive disorder characterized by severe congenital muscular dystrophy, structural brain anomalies and eye abnormalities. WWS shows a unexpected high level of genetic heterogeneity and mutations in 12 different genes, all engaged in the O-glycosylation of α‎DG, have been connected to WWS so far. Strikingly, there is also large clinical variability and mutations in these genes have also been identified for other muscular dystrophy-dystroglycanopathy syndromes, which are typically milder in their phenotypic presentation.

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