Pelizaeus-Merzbacher disease

A point mutation in exon 6 of the proteolipid protein (PLP) gene

V. M. Pratt, Stephen Dlouhy, M. E. Hodes

Research output: Contribution to journalArticle

5 Citations (Scopus)

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
Pages (from-to)99-100
Number of pages2
JournalClinical Genetics
Volume47
Issue number2
StatePublished - 1995

Fingerprint

Pelizaeus-Merzbacher Disease
Proteolipids
Point Mutation
Exons
Proteins
Central Nervous System
Mutation

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Pelizaeus-Merzbacher disease : A point mutation in exon 6 of the proteolipid protein (PLP) gene. / Pratt, V. M.; Dlouhy, Stephen; Hodes, M. E.

In: Clinical Genetics, Vol. 47, No. 2, 1995, p. 99-100.

Research output: Contribution to journalArticle

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