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

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.

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Bibliographic Details
Published inClinical genetics Vol. 47; no. 2; p. 99
Main Authors Pratt, V M, Dlouhy, S R, Hodes, M E
Format Journal Article
LanguageEnglish
Published Denmark 01.02.1995
Subjects
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
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Summary: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.
ISSN:0009-9163
1399-0004
DOI:10.1111/j.1399-0004.1995.tb03932.x