Permanent muscle weakness in McArdle disease.

  title={Permanent muscle weakness in McArdle disease.},
  author={Aleksandra A Nadaj-Pakleza and Carlo M Vincitorio and Pascal Lafor{\^e}t and Bruno Eymard and Elisabeth Dion and Susana Teijeira and Irene Vi{\'e}tez and Marc Jeanpierre and Carmen Navarro and Tanya Stojkovic},
  journal={Muscle & nerve},
  volume={40 3},
McArdle disease is an autosomal recessive muscle glycogenosis. In the typical clinical presentation, only exercise-related symptoms are noted. Nevertheless, permanent weakness may occur, usually late in life. In this study we report on the clinical and genetic features of fixed muscle weakness in McArdle disease. Among the 80 McArdle patients being followed at the Institute of Myology of the Salpêtrière Hospital, 9 patients have permanent weakness. The diagnosis of McArdle disease was confirmed… CONTINUE READING
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