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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D001483:Base Sequence; D002648:Child; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons / Q000235:genetics*; D005796:Genes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009185:Myelin Proteins / Q000235:genetics*; D018991:Myelin Proteolipid Protein; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D014960:X Chromosome
D009185:Myelin Proteins; D018991:Myelin Proteolipid Protein