Familial polyglucosan body myopathy with unusual phenotype

Neuropathol Appl Neurobiol. 2015 Apr;41(3):385-90. doi: 10.1111/nan.12171.
No abstract available

Publication types

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

MeSH terms

  • Aged
  • Female
  • Genetic Predisposition to Disease
  • Glycogen Storage Disease / genetics
  • Glycogen Storage Disease / pathology*
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Nervous System Diseases / genetics
  • Nervous System Diseases / pathology*
  • Pedigree
  • Phenotype
  • Transcription Factors / genetics
  • Ubiquitin-Protein Ligases

Substances

  • Transcription Factors
  • RBCK1 protein, human
  • Ubiquitin-Protein Ligases

Supplementary concepts

  • Polyglucosan Body Disease, Adult Form