A New Muscle Glycogen Storage Disease Associated with Glycogenin-1 Deficiency

作者：Malfatti Edoardo; Nilsson Johanna; Hedberg Oldfors Carola; Hernandez Lain Aurelio; Michel Fabrice; Dominguez Gonzalez Cristina; Viennet Gabriel; Akman H Orhan; Kornblum Cornelia; Van den Bergh Peter; Romero Norma B; Engel Andrew G; DiMauro Salvatore; Oldfors Anders^*

来源：Annals of Neurology, 2014, 76(6): 891-898.

DOI：10.1002/ana.24284

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

• 出版日期2014-12