Malfatti E, Nilsson J, Hedberg‐Oldfors C, Hernandez‐Lain A, Michel F, Dominguez‐Gonzalez C, Viennet G, Akman HO, Kornblum C, Van den Bergh P, Romero NB, Engel AG, DiMauro S, Oldfors A. A new muscle glycogen storage disease associated with glycogenin‐1 deficiency. Annals of Neurology. 2014 Oct 31;76(6):891–8. doi: 10.1002/ana.24284.