2. Academic Validation
  3. A new muscle glycogen storage disease associated with glycogenin-1 deficiency

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

  • Ann Neurol. 2014 Dec;76(6):891-8. doi: 10.1002/ana.24284.
Edoardo Malfatti 1,  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
Affiliations

Affiliation

  • 1 Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden; Myology Institute, Neuromuscular Morphology Unit, Pierre and Marie Curie University, Pitié-Salpêtrière University Hospital Group, Sorbonne Universities, Paris, France.
PMID: 25272951 DOI: 10.1002/ana.24284
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.

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