Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy

@article{Moore2002DeletionOB,
  title={Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy},
  author={Steven A. Moore and Fumiaki Saito and Jianguo Chen and Daniel Eugene Michele and M. David Henry and Albee Messing and Ronald D. Cohn and Susan E. Ross-Barta and Steve Westra and R Anthony Williamson and Toshinori Hoshi and Kevin P Campbell},
  journal={Nature},
  year={2002},
  volume={418},
  pages={422-425}
}
Fukuyama congenital muscular dystrophy (FCMD), muscle–eye–brain disease (MEB), and Walker–Warburg syndrome are congenital muscular dystrophies (CMDs) with associated developmental brain defects. Mutations reported in genes of FCMD and MEB patients suggest that the genes may be involved in protein glycosylation. Dystroglycan is a highly glycosylated component of the muscle dystrophin–glycoprotein complex that is also expressed in brain, where its function is unknown. Here we show that brain… CONTINUE READING
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