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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 or aspartate 90, are located in the extracellular domain, which plays a significant role in myelin membrane adhesion. Individuals with CMT1B are heterozygous for the normal allele and the mutant allele. Our results indicate that P0 is a gene responsible for CMT1B.
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August 1993,
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March 1999,
Neurology,
K Hayasaka, and
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K Hayasaka, and
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K Hayasaka, and
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P F Chance
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Proceedings of the National Academy of Sciences of the United States of America,
K Hayasaka, and
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P F Chance
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Nature genetics,
K Hayasaka, and
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December 2020,
European journal of neurology,
K Hayasaka, and
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September 2003,
European journal of neurology,
