Glycogen Synthesis in Glycogenin 1-Deficient Patients: A Role for Glycogenin 2 in Muscle.

@article{Krag2017GlycogenSI,
  title={Glycogen Synthesis in Glycogenin 1-Deficient Patients: A Role for Glycogenin 2 in Muscle.},
  author={Thomas O. Krag and Cristina Ruiz-Ruiz and John Vissing},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2017},
  volume={102 8},
  pages={2690-2700}
}
Context Glycogen storage disease (GSD) type XV is a rare disease caused by mutations in the GYG1 gene that codes for the core molecule of muscle glycogen, glycogenin 1. Nonetheless, glycogen is present in muscles of glycogenin 1-deficient patients, suggesting an alternative for glycogen buildup. A likely candidate is glycogenin 2, an isoform expressed in… CONTINUE READING