Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy

  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},
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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Mutations in the Fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin a2 deficiency and abnormal glycosylation of a-dystroglycan

  • M Brockington
  • Am. J. Hum. Genet
  • 2001

b1-class integrins regulate the development of laminae and folia in the cerebral and cerebellar cortex

  • D Graus-Porta
  • Neuron 31,
  • 2001

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