Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.

  title={Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.},
  author={Elizabeth Stevens and Keren J. Carss and Sebahattin Çirak and A. Reghan Foley and S. G. Torelli and Tobias Willer and Dimira E. Tambunan and Shu Ching Yau and Lina Brodd and Caroline A. Sewry and Lucy Feng and Goknur Haliloğlu and Diclehan Orhan and William B Dobyns and Gregory M. Enns and Melanie Manning and Amanda Krause and Mustafa A.M. Salih and Christopher A. Walsh and Matthew E. Hurles and Kevin P Campbell and M Chiara Manzini and Derek Stemple and Yung-Yao Lin and Francesco Muntoni},
  journal={American journal of human genetics},
  volume={92 3},
Mutations in several known or putative glycosyltransferases cause glycosylation defects in α-dystroglycan (α-DG), an integral component of the dystrophin glycoprotein complex. The hypoglycosylation reduces the ability of α-DG to bind laminin and other extracellular matrix ligands and is responsible for the pathogenesis of an inherited subset of muscular dystrophies known as the dystroglycanopathies. By exome and Sanger sequencing we identified two individuals affected by a dystroglycanopathy… CONTINUE READING


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Muscle Biopsy: A Practical Approach, Fourth Edition (Oxford, UK: SAUNDERS Elsevier)

  • V. Dubowitz, C. A. Sewry, A. Oldfors
  • 2012
1 Excerpt

Please cite this article in press as: Stevens et al., Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of aDystroglycan

  • R. Harrison, P. G. Hitchen, +6 authors S. M. Haslam
  • American Journal of Human Genetics 92,
  • 2012
3 Excerpts

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