Download Slides - Rare Disease

Dystroglycanopathies are extremely genetically andclinically heterogeneous• Mutations in 10 genes cause dystroglycanopathiesand all affect -DGglycosylation• Some genes are glycosyltransferases,others are suspected to have a role inglycosylation• -DG glycosylation is essential for itfunction, e.g. laminin binding• Mutations in these genes explain only aportion of the cases• Mutations in the same gene cause a spectrum of phenotypes affectingthe brain-eye-muscle or only the muscle