Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy

Neurology. 2003 Jul 8;61(1):145; author reply 145. doi: 10.1212/wnl.61.1.145.
No abstract available

Publication types

  • Comment
  • Letter

MeSH terms

  • Alleles
  • Carbohydrate Epimerases / genetics
  • Carbohydrate Epimerases / metabolism
  • Enzyme Activation
  • Humans
  • Multienzyme Complexes / genetics
  • Multienzyme Complexes / metabolism
  • Muscular Dystrophies / classification*
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology
  • Myositis, Inclusion Body / classification*
  • Myositis, Inclusion Body / genetics*
  • Phosphotransferases (Alcohol Group Acceptor) / genetics
  • Phosphotransferases (Alcohol Group Acceptor) / metabolism
  • Protein Structure, Tertiary
  • Reproducibility of Results
  • Sialic Acids / biosynthesis
  • Vacuoles / pathology*

Substances

  • Multienzyme Complexes
  • Sialic Acids
  • Phosphotransferases (Alcohol Group Acceptor)
  • N-acylmannosamine kinase
  • Carbohydrate Epimerases
  • UDP acetylglucosamine-2-epimerase