Article
Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene.
Nature genetics - 1 Sept 1993
Hayasaka K, Himoro M, Sato W, Takada G, Uyemura K, Shimizu N, Bird T D, Conneally P M, Chance P F
Abstract excerpt
P0, a major structural protein of peripheral myelin, is a homophilic adhesion molecule and maps to chromosome 1q22-q23, in the region of the locus for Charcot-Marie-Tooth neuropathy type 1B (CMT1B). We have investigated P0 as a candidate gene in two pedigrees with CMT1B and found point mutations...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Charcot-Marie-Tooth Disease
- Chromosomes, Human, Pair 1
- Female
- Genes
- Genotype
- Humans
- Lod Score
- Male
- Molecular Sequence Data
- Mutation
- Myelin P0 Protein
- Myelin Proteins
- Pedigree
- Polymorphism, Restriction Fragment Length