Classic Pelizaeus-Merzbacher disease in a girl with an unbalanced chromosomal translocation and functional duplication of PLP1

Mov Disord. 2009 Oct 30;24(14):2171-2. doi: 10.1002/mds.22734.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child, Preschool
  • Failure to Thrive
  • Female
  • Gene Duplication*
  • Genes, X-Linked
  • Humans
  • Magnetic Resonance Imaging
  • Myelin Proteolipid Protein / genetics*
  • Oligonucleotide Array Sequence Analysis
  • Pelizaeus-Merzbacher Disease / genetics*
  • Translocation, Genetic / genetics*

Substances

  • Myelin Proteolipid Protein
  • PLP1 protein, human