Exclusion of WWP1 mutations in a cohort of dystroglycanopathy patients.

@article{Godfrey2011ExclusionOW,
  title={Exclusion of WWP1 mutations in a cohort of dystroglycanopathy patients.},
  author={Caroline Godfrey and Emma M Clement and Stephen J. Abbs and Francesco Muntoni},
  journal={Muscle & nerve},
  year={2011},
  volume={44 3},
  pages={388-92}
}
INTRODUCTION Aberrant glycosylation of α-dystroglycan is associated with a subset of clinically heterogeneous muscular dystrophies collectively referred to as the dystroglycanopathies. These autosomal-recessive disorders span a wide spectrum of clinical severity ranging from Walker-Warburg syndrome, with severe brain and eye abnormalities, to mild adult… CONTINUE READING