| First Author | Hayasaka K | Year | 1993 |
| Journal | Nat Genet | Volume | 5 |
| Issue | 1 | Pages | 31-4 |
| PubMed ID | 7693129 | Mgi Jnum | J:42836 |
| Mgi Id | MGI:1096549 | Doi | 10.1038/ng0993-31 |
| Citation | Hayasaka K, et al. (1993) Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene [see comments]. Nat Genet 5(1):31-4 |
| abstractText | 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. |
