Citations 3
Investigation of Congenital Myasthenic Syndrome (CMS) Reveals Asymmetric Contribution of Invariant Cys-Loop Aspartate Residues Critical for AChR Channel Opening (S45.002)
Shen, Xin , Brengman, Joan M., Neubauer, David , Engel, Andrew G.
Neurology | December 7, 2023 | Volume: 80 | Issue: 7_supplement | Pages: No page available
Investigation of 11 Patients with GFPT1-Myasthenia Reveals Clinical, Structural, and Electrophysiologic Heterogeneity (S45.001)
Selcen, Duygu , Shen, Xin , Milone, Margherita , Brengman, Joan M., McQuillen, Michael, Deymeer, Feza , Rowin, Julie, Ohno, Kinji , McQuillen, Michael, Finkel, Richard S. , Engel, Andrew G.
Neurology | December 7, 2023 | Volume: 80 | Issue: 7_supplement | Pages: No page available
A new muscle glycogen storage disease associated with glycogenin‐1 deficiency
Hedberg‐Oldfors, Carola , Hernández‐Laín, Aurelio , Michel, Fabrice , Domínguez‐González, Cristina , Viennet, G., Akman, Hasan O. , Kornblum, Cornelia , Romero, Norma B., DiMauro, Salvatore, Oldfors, Anders , Malfatti, Edoardo , Nilsson, Johanna E. , Bergh, Peter Y. K. Van den , Engel, Andrew G.
Annals of Neurology | October 1, 2014 | Volume: 76 | Issue: 6 | Pages: 891-898
We describe a slowly progressive myopathy in 7 unrelated adult patients with storage of polyglucosan in muscle fibers. Genetic investigation revealed homozygous or compound heterozygous deleterious variants in the glycogenin‐1 gene (GYG1). Most patients showed depletion of glycogenin‐1 in skeletal muscle, whereas 1 showed presence of glycogenin‐1 lacking the C‐terminal that normally binds glycogen synthase. Our results indicate that either depletion of glycogenin‐1 or impaired interaction with glycogen synthase underlies this new form of glycogen storage disease that differs from a previously reported patient with GYG1 mutations who showed profound glycogen depletion in skeletal muscle and accumulation of glycogenin‐1. Ann Neurol 2014;76:891–898