[Polyglycosan body myopathy]

Nervenarzt. 2006 Dec;77(12):1487-91. doi: 10.1007/s00115-006-2184-x.
[Article in German]

Abstract

We report two patients with polyglycosan body disease manifesting in adulthood. Clinical, electrophysiological, and histopathological characteristics of their disorders are summarized, and diagnostic classification is discussed.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • 1,4-alpha-Glucan Branching Enzyme / deficiency*
  • 1,4-alpha-Glucan Branching Enzyme / genetics
  • Aged
  • Biopsy
  • Diagnosis, Differential
  • Female
  • Glycogen Debranching Enzyme System / deficiency*
  • Glycogen Debranching Enzyme System / genetics
  • Glycogen Storage Disease Type III / diagnosis
  • Glycogen Storage Disease Type III / genetics*
  • Glycogen Storage Disease Type III / pathology
  • Glycogen Storage Disease Type IV / diagnosis
  • Glycogen Storage Disease Type IV / genetics*
  • Glycogen Storage Disease Type IV / pathology
  • Humans
  • Male
  • Muscle, Skeletal / pathology
  • Myositis, Inclusion Body / diagnosis
  • Myositis, Inclusion Body / genetics*
  • Myositis, Inclusion Body / pathology
  • Vacuoles / pathology

Substances

  • Glycogen Debranching Enzyme System
  • 1,4-alpha-Glucan Branching Enzyme