title: Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.
abstract: We have previously reported that the mutations of the myelin P0 gene were completely linked with Charcot-Marie-Tooth neuropathy type 1B (CMT1B) in two families. In this study we found a different mutation in another family with CMT1B. The mutation, a methionine substitution for isoleucine at amino acid position 30, is located in the extracellular domain, which constitutes an immunoglobulin domain responsible for the function of P0 as an adhesion molecule. The results confirmed that P0 is a gene responsible for CMT1B.
authors.affiliation: Department of Pediatrics, Akita University School of Medicine, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Hayasaka
authors.forename: G
authors.initials: G
authors.lastname: Takada
authors.forename: V V
authors.initials: VV
authors.lastname: Ionasescu
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D018993:Myelin P0 Protein; D009185:Myelin Proteins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation
chemical_list: D018076:DNA, Complementary; D018993:Myelin P0 Protein; D009185:Myelin Proteins