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- Title
A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
- Authors
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
- Abstract
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
- Publication
Annals of Neurology, 2014, Vol 76, Issue 6, p891
- ISSN
0364-5134
- Publication type
Article
- DOI
10.1002/ana.24284