| First Author | Matsunami N | Year | 1992 |
| Journal | Nat Genet | Volume | 1 |
| Issue | 3 | Pages | 176-9 |
| PubMed ID | 1303231 | Mgi Jnum | J:1088 |
| Mgi Id | MGI:49620 | Doi | 10.1038/ng0692-176 |
| Citation | Matsunami N, et al. (1992) Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nat Genet 1(3):176-9 |
| abstractText | Charcot-Marie-Tooth disease 1A (CMT1A) is a hereditary demyelinating peripheral neuropathy, associated with a DNA duplication on chromosome 17p11.2. A related disorder in the mouse, trembler (Tr), maps to mouse chromosome 11 which has syntenic homology to human chromosome 17p. Recently, the peripheral myelin protein-22 (pmp-22) gene was identified as the likely Tr locus. We have constructed a partial yeast artificial chromosome contig spanning the CMT1A gene region and mapped the PMP-22 gene to the duplicated region. These observations further implicate PMP-22 as a candidate gene for CMT1A, and suggest that over-expression of this gene may be one mechanism that produces the CMT1A phenotype. |
