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Schematic of dystroglycan glycosylation and glycosyltransferase function

Dystroglycan is a transmembrane protein connecting the cell to extracellular ligands, such as laminin. Alpha- and beta-dystroglycan (DG) are shown in purple. The site of action of each glycosyltransferase mutated in dystroglycanopathies is indicated at the respective bonds on the functional glycan. Abbreviations: Man= mannose, GlcNac=N-acetylglucosamine, GalNac=N-acetylgalactosamine, Gal=galactose, RboP=ribitol phosphate, Xyl=xylose, GlcA=glucuronic acid. (The figure was partially created with BioRender. Contributed by Dr. Maria Chiara Manzini.)

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  • Cataract
  • Cerebellar malformation
  • Congenital muscular dystrophy
  • Corneal opacity
  • Dandy-Walker syndrome
  • Encephalocele
  • Glaucoma
  • Hydrocephalus
  • Lissencephaly
  • Microphthalmos
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  • Retinal detachment
  • Retinal dysplasia