Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

@article{Carss2013MutationsIG,
  title={Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.},
  author={Keren J. Carss and Elizabeth Stevens and A. Reghan Foley and Sebahattin Çirak and Moniek Riemersma and S. G. Torelli and Alexander Hoischen and Tobias Willer and Monique van Scherpenzeel and Steven A. Moore and Sonia Messina and Enrico Bertini and Carsten G B{\"o}nnemann and Jose E. Abdenur and Carla M Grosmann and Akanchha Kesari and Jaya Punetha and Ros C M Quinlivan and Leigh B. Waddell and Helen K Young and Elizabeth A Wraige and Shu Ching Yau and Lina Brodd and Lucy Feng and Caroline A. Sewry and Daniel G. MacArthur and Kathryn N North and Eric Hoffman and Derek L. Stemple and Matthew E. Hurles and Hans van Bokhoven and Kevin P Campbell and Dirk J. Lefeber and Yung-Yao Lin and Francesco Muntoni},
  journal={American journal of human genetics},
  year={2013},
  volume={93 1},
  pages={29-41}
}
Congenital muscular dystrophies with hypoglycosylation of α-dystroglycan (α-DG) are a heterogeneous group of disorders often associated with brain and eye defects in addition to muscular dystrophy. Causative variants in 14 genes thought to be involved in the glycosylation of α-DG have been identified thus far. Allelic mutations in these genes might also cause milder limb-girdle muscular dystrophy phenotypes. Using a combination of exome and Sanger sequencing in eight unrelated individuals, we… CONTINUE READING

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