McArdle disease and sporadic inclusion body myositis

Neuropathol Appl Neurobiol. 2009 Aug;35(4):442-445. doi: 10.1111/j.1365-2990.2009.01019.x. Epub 2009 Feb 11.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Amyloid beta-Peptides / metabolism
  • DNA Mutational Analysis
  • Female
  • Glycogen Storage Disease Type V / genetics
  • Glycogen Storage Disease Type V / pathology*
  • Glycogen Storage Disease Type V / physiopathology*
  • Humans
  • Immunohistochemistry
  • Male
  • Microscopy, Electron
  • Middle Aged
  • Mothers
  • Multienzyme Complexes / genetics
  • Muscle, Skeletal / diagnostic imaging
  • Muscle, Skeletal / metabolism
  • Mutation
  • Myositis, Inclusion Body / genetics
  • Myositis, Inclusion Body / pathology*
  • Myositis, Inclusion Body / physiopathology*
  • Phosphorylases / genetics
  • Phosphorylation
  • Siblings
  • Ultrasonography
  • tau Proteins / metabolism

Substances

  • Amyloid beta-Peptides
  • MAPT protein, human
  • Multienzyme Complexes
  • UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase
  • tau Proteins
  • Phosphorylases