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  • Malfatti, EdoardoGothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology (author)

A New Muscle Glycogen Storage Disease Associated with Glycogenin-1 Deficiency

  • Article/chapterEnglish2014

Publisher, publication year, extent ...

  • 2014-10-31
  • Wiley,2014

Numbers

  • LIBRIS-ID:oai:gup.ub.gu.se/210499
  • https://gup.ub.gu.se/publication/210499URI
  • https://doi.org/10.1002/ana.24284DOI

Supplementary language notes

  • Language:English

Part of subdatabase

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • 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

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Nilsson, JohannaGothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology(Swepub:gu)xniljo (author)
  • Hedberg, Carola,1969Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology(Swepub:gu)xnordc (author)
  • Hernandez-Lain, A. (author)
  • Michel, F. (author)
  • Dominguez-Gonzalez, C. (author)
  • Viennet, G. (author)
  • Akman, H. O. (author)
  • Kornblum, C. (author)
  • Van den Bergh, P. (author)
  • Romero, N. B. (author)
  • Engel, A. G. (author)
  • DiMauro, S. (author)
  • Oldfors, Anders,1951Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology(Swepub:gu)xoland (author)
  • Göteborgs universitetInstitutionen för biomedicin, avdelningen för patologi (creator_code:org_t)

Related titles

  • In:Annals of Neurology: Wiley76:6, s. 891-8980364-5134

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