Phosphoglycerate mutase deficiency: case report of a manifesting heterozygote with a novel E154K mutation and very late onset

Acta Neuropathol. 2009 Jun;117(6):723-5. doi: 10.1007/s00401-009-0524-1. Epub 2009 Mar 26.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Age of Onset
  • Aged
  • Amino Acid Sequence
  • Conserved Sequence
  • DNA Mutational Analysis
  • Glycogen Storage Disease / genetics*
  • Glycogen Storage Disease / pathology
  • Heterozygote
  • Humans
  • Molecular Sequence Data
  • Muscles / pathology
  • Mutation, Missense
  • Phosphoglycerate Mutase / chemistry
  • Phosphoglycerate Mutase / deficiency*
  • Phosphoglycerate Mutase / genetics*

Substances

  • Phosphoglycerate Mutase