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A new muscle glycogen storage disease associated with glycogenin-1 deficiency.

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.
AuthorsEdoardo Malfatti, Johanna Nilsson, Carola Hedberg-Oldfors, Aurelio Hernandez-Lain, Fabrice Michel, Cristina Dominguez-Gonzalez, Gabriel Viennet, H Orhan Akman, Cornelia Kornblum, Peter Van den Bergh, Norma B Romero, Andrew G Engel, Salvatore DiMauro, Anders Oldfors
JournalAnnals of neurology (Ann Neurol) Vol. 76 Issue 6 Pg. 891-8 (Dec 2014) ISSN: 1531-8249 [Electronic] United States
PMID25272951 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
Copyright© 2014 The Authors Annals of Neurology published by Wiley Periodicals, Inc. on behalf of American Neurological Association.
Chemical References
  • Glycoproteins
  • glycogenin
  • Glucosyltransferases
  • Glycogen Synthase
Topics
  • Adult
  • Aged
  • Female
  • Glucosyltransferases (deficiency, genetics)
  • Glycogen Storage Disease (diagnosis, genetics, metabolism)
  • Glycogen Synthase (metabolism)
  • Glycoproteins (deficiency, genetics)
  • Humans
  • Male
  • Middle Aged
  • Muscle, Skeletal (metabolism)

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