ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

@inproceedings{Cirak2013ISPDGM,
  title={ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies},
  author={Sebahattin Cirak and A. Reghan Foley and Ralf Herrmann and Tobias Willer and Shu Ching Yau and Elizabeth Stevens and S. G. Torelli and Lina Brodd and Alisa Kamynina and Petr Vondr{\'a}{\vc}ek and Helen P Roper and Cheryl Longman and Rudolf Korinthenberg and Gianni Marrosu and Peter N{\"u}rnberg and Daniel E. Michele and Vincent Plagnol and Matt E Hurles and Steven A. Moore and Caroline A. Sewry and Kevin P Campbell and Thomas Voit and Francesco Muntoni},
  booktitle={Brain : a journal of neurology},
  year={2013}
}
Dystroglycanopathies are a clinically and genetically diverse group of recessively inherited conditions ranging from the most severe of the congenital muscular dystrophies, Walker-Warburg syndrome, to mild forms of adult-onset limb-girdle muscular dystrophy. Their hallmark is a reduction in the functional glycosylation of α-dystroglycan, which can be detected in muscle biopsies. An important part of this glycosylation is a unique O-mannosylation, essential for the interaction of α-dystroglycan… CONTINUE READING

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