The dystroglycanopathies: the new disorders of O-linked glycosylation.

  title={The dystroglycanopathies: the new disorders of O-linked glycosylation.},
  author={Paul T. Martin},
  journal={Seminars in pediatric neurology},
  volume={12 3},
It has become clear in the past half decade that a number of forms of congenital muscular dystrophy are in fact congenital disorders of glycosylation. Genes for Walker Warburg syndrome, muscle-eye-brain disease, Fukuyama congenital muscular dystrophy, congenital muscular dystrophy 1C and 1D, and limb girdle muscular dystrophy 21 have been identified, and gene mutations resulting in these diseases all cause the underglycosylation of alpha dystroglycan with O-linked carbohydrates. Unlike… CONTINUE READING