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 which are completely linked with the disease (Z = 5.5, theta = 0). The mutations, glutamate substitution for lysine 96...
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