Associated Papers
Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage.
Visuttijai K et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Polyglucosan myopathy and functional characterization of a novel GYG1 mutation.
Hedberg-Oldfors C et al.
Acta Neurologica Scandinavica, 2018
A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
Malfatti E et al.
Annals of Neurology, 2014
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