Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene

Clin Genet. 1995 Feb;47(2):99-100. doi: 10.1111/j.1399-0004.1995.tb03932.x.

Abstract

Pelizaeus-Merzbacher disease has been known since 1885. It is characterized by severe dysmyelination of the central nervous system. We describe a new mutation in exon 6 of the proteolipid protein gene in a 9-year-old boy with severe connatal Pelizaeus-Merzbacher disease.

Publication types

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

MeSH terms

  • Base Sequence
  • Child
  • Diffuse Cerebral Sclerosis of Schilder / genetics*
  • Electrophoresis, Polyacrylamide Gel
  • Exons / genetics*
  • Genes
  • Humans
  • Male
  • Molecular Sequence Data
  • Myelin Proteins / genetics*
  • Myelin Proteolipid Protein
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • X Chromosome

Substances

  • Myelin Proteins
  • Myelin Proteolipid Protein