Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations.

@article{Viitez2011MolecularAC,
  title={Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations.},
  author={Irene Vi{\'e}itez and Susana Teijeira and Jos{\'e} Mar{\'i}a Urman Fern{\'a}ndez and Beatriz San Mill{\'a}n and S. I. Miranda and Saida Ortolano and Sarah Maria Louis and Pascal Lafor{\^e}t and Carmen Navarro},
  journal={Neuromuscular disorders : NMD},
  year={2011},
  volume={21 12},
  pages={817-23}
}
McArdle's disease is the most common muscle glycogenosis. It is caused by the deficiency of myophosphorylase, encoded by the PYGM gene. We studied 123 patients previously diagnosed with McArdle's disease and we identified 20 novel mutations (10 missense and 3 nonsense mutations, 3 small deletions, 2 gross deletions and 2 small insertions). Most patients of this cohort belong to Spanish and French populations. This allowed us to determine the differences between the allelic frequencies of the… CONTINUE READING