Arena syndrome is caused by a missense mutation in PLP1

Am J Med Genet A. 2009 May;149A(5):1081. doi: 10.1002/ajmg.a.32795.
No abstract available

MeSH terms

  • Basal Ganglia / metabolism
  • DNA Mutational Analysis
  • Exons / genetics
  • Humans
  • Iron / metabolism
  • Magnetic Resonance Imaging
  • Male
  • Mutation, Missense*
  • Myelin Proteolipid Protein / genetics*
  • Paraplegia / genetics*
  • Pelizaeus-Merzbacher Disease / genetics*
  • Syndrome
  • Thalamus / metabolism
  • X-Linked Intellectual Disability / genetics*

Substances

  • Myelin Proteolipid Protein
  • PLP1 protein, human
  • Iron