Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation

J Neurol Neurosurg Psychiatry. 2016 Jul;87(7):797-800. doi: 10.1136/jnnp-2015-310553. Epub 2015 Jul 22.
No abstract available

Keywords: MYOPATHY; NEUROMUSCULAR.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Female
  • Glucosyltransferases / genetics*
  • Glycogen Storage Disease / genetics*
  • Glycogen Storage Disease / pathology*
  • Glycoproteins / genetics*
  • Humans
  • Magnetic Resonance Imaging
  • Middle Aged
  • Muscle, Skeletal / pathology*
  • Mutation
  • Nervous System Diseases / genetics*
  • Nervous System Diseases / pathology*

Substances

  • Glycoproteins
  • glycogenin
  • Glucosyltransferases

Supplementary concepts

  • Polyglucosan Body Disease, Adult Form