Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease.

@article{DouillardGuilloux2010RestorationOM,
  title={Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease.},
  author={Gaelle Douillard-Guilloux and Nina Raben and Shoichi Takikita and Arnaud Ferry and Alban Vignaud and Isabelle Guillet-Deniau and Maryline Favier and Beth L. Thurberg and Peter Roach and Catherine Caillaud and Emmanuel Richard},
  journal={Human molecular genetics},
  year={2010},
  volume={19 4},
  pages={684-96}
}
Glycogen storage disease type II (GSDII) or Pompe disease is an autosomal recessive disorder caused by acid alpha-glucosidase (GAA) deficiency, leading to lysosomal glycogen accumulation. Affected individuals store glycogen mainly in cardiac and skeletal muscle tissues resulting in fatal hypertrophic cardiomyopathy and respiratory failure in the most severe infantile form. Enzyme replacement therapy has already proved some efficacy, but results remain variable especially in skeletal muscle… CONTINUE READING
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