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

Victoria M. Pratt, Stephen R. Dlouhy, M. E. Hodes

Research output: Contribution to journalArticle

5 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)99-100
Number of pages2
JournalClinical Genetics
Volume47
Issue number2
DOIs
StatePublished - Feb 1995

    Fingerprint

Keywords

  • Dysmyelination
  • Pelizaeus-Menbacher disease
  • PLP gene
  • Point mutation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this