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Glycosylation of dystroglycan

The dystroglycan protein is represented by a dumbbell-shaped structure to which sugars are sequentially added, starting with O-mannosylation of a threonine/serine site. The sites of action of 3 enzymes are shown. The sites of action of Fukutin, FKRP and LARGE are unknown, yet deficiency of these enzymes also causes dystroglycanopathy. (Adapted from Hewitt 2009.)

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Associated Disorders

  • Agyria
  • Brain malformation
  • Buphthalmos
  • Cataract
  • Cerebellar malformation
  • Congenital muscular dystrophy
  • Corneal opacity
  • Dandy-Walker syndrome
  • Encephalocele
  • Glaucoma
  • Hydrocephalus
  • Lissencephaly
  • Microphthalmos
  • Optic nerve atrophy
  • Retinal detachment
  • Retinal dysplasia