Position effect on PLP1 may cause a subset of Pelizaeus-Merzbacher disease symptoms

J Med Genet. 2004 Dec;41(12):e121. doi: 10.1136/jmg.2004.019141.
No abstract available

Publication types

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

MeSH terms

  • Ataxia / genetics
  • Brain / diagnostic imaging
  • Child, Preschool
  • Chromosome Breakage
  • Chromosome Mapping
  • Chromosomes, Human, X*
  • Cloning, Molecular
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Membrane Proteins / genetics*
  • Myelin Proteolipid Protein / genetics*
  • Paraplegia / genetics
  • Pelizaeus-Merzbacher Disease / diagnostic imaging
  • Pelizaeus-Merzbacher Disease / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Tomography, X-Ray Computed

Substances

  • Membrane Proteins
  • Myelin Proteolipid Protein
  • PLP1 protein, human

Associated data

  • OMIM/312080