A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation.
Andoni Echaniz-LagunaXavière LornagePascal LaforêtMette C OrngreenEvelina EdelweissGuy BrochierMai T BuiRoberto Silva-RojasCatherine BirckBéatrice LannesNorma B RomeroJohn VissingJocelyn LaporteJohann BöhmPublished in: Annals of neurology (2020)
Overall, this study describes the first example of a dominant glycogen storage disease in humans, and elucidates the underlying pathomechanisms by deciphering the sequence of events from the PYGM mutation to the accumulation of glycogen in the muscle fibers. ANN NEUROL 2020;88:274-282.
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