title: 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.
authors.affiliation: 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.
authors.forename: Edoardo
authors.initials: E
authors.lastname: Malfatti
authors.forename: Johanna
authors.initials: J
authors.lastname: Nilsson
authors.forename: Carola
authors.initials: C
authors.lastname: Hedberg-Oldfors
authors.forename: Aurelio
authors.initials: A
authors.lastname: Hernandez-Lain
authors.forename: Fabrice
authors.initials: F
authors.lastname: Michel
authors.forename: Cristina
authors.initials: C
authors.lastname: Dominguez-Gonzalez
authors.forename: Gabriel
authors.initials: G
authors.lastname: Viennet
authors.forename: H Orhan
authors.initials: HO
authors.lastname: Akman
authors.forename: Cornelia
authors.initials: C
authors.lastname: Kornblum
authors.forename: Peter
authors.initials: P
authors.lastname: Van den Bergh
authors.forename: Norma B
authors.initials: NB
authors.lastname: Romero
authors.forename: Andrew G
authors.initials: AG
authors.lastname: Engel
authors.forename: Salvatore
authors.initials: S
authors.lastname: DiMauro
authors.forename: Anders
authors.initials: A
authors.lastname: Oldfors
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D005964:Glucosyltransferases / Q000172:deficiency* / Q000235:genetics; D006008:Glycogen Storage Disease / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism*; D006006:Glycogen Synthase / Q000378:metabolism; D006023:Glycoproteins / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000378:metabolism*
chemical_list: D006023:Glycoproteins; C051887:glycogenin; D005964:Glucosyltransferases; D006006:Glycogen Synthase