Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy

Muscle Nerve. 2018 May;57(5):E122-E124. doi: 10.1002/mus.26030. Epub 2017 Dec 22.
No abstract available

Keywords: glycogen storage disease XV; glycogenin-1; metabolic myopathies; myopathology; polyglucosan body myopathy-2.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Glucans / metabolism
  • Glucosyltransferases / metabolism*
  • Glycogen Storage Disease / complications*
  • Glycogen Storage Disease / diagnostic imaging
  • Glycoproteins / metabolism*
  • Humans
  • Middle Aged
  • Muscle Weakness / diagnostic imaging
  • Muscle Weakness / etiology*
  • Muscle Weakness / metabolism*
  • Nervous System Diseases / complications*
  • Nervous System Diseases / diagnostic imaging

Substances

  • Glucans
  • Glycoproteins
  • glycogenin
  • polyglucosan
  • Glucosyltransferases

Supplementary concepts

  • Polyglucosan Body Disease, Adult Form