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

Edoardo Malfatti, Johanna Nilsson, Carola Hedberg-Oldfors, Aurelio Hernez-Lain, Fabrice Michel, Cristina Dominguez-Gonzalez, Gabriel Viennet, H. Orhan Akman, Cornelia Kornblum, Peter Den Van Bergh, Norma B. Romero, Andrew G. Engel, Salvatore DiMauro, Anders Oldfors

Research output: Contribution to journalArticle

47 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)891-898
Number of pages8
JournalAnnals of neurology
Volume76
Issue number6
DOIs
StatePublished - Dec 1 2014

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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