| First Author | Roa BB | Year | 1993 |
| Journal | Nat Genet | Volume | 5 |
| Issue | 3 | Pages | 269-73 |
| PubMed ID | 8275092 | Mgi Jnum | J:42839 |
| Mgi Id | MGI:1096587 | Doi | 10.1038/ng1193-269 |
| Citation | Roa BB, et al. (1993) Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet 5(3):269-73 |
| abstractText | Dejerine-Sottas syndrome is a hypertrophic, demyelinating neuropathy which appears to demonstrate autosomal recessive inheritance in most pedigrees. Clinical symptoms are similar but more severe than Charcot-Marie-Tooth disease type 1 (CMT1), of which the major subtype, CMT1A, results either from duplication of a 1.5-megabase DNA region in chromosome 17p11.2-p12 containing the myelin gene PMP22, or from PMP22 point mutation. Mutational analysis of the PMP22 coding region in two unrelated Dejerine-Sottas patients identified individual missense point mutations present in the heterozygous state. These findings suggest that Dejerine-Sottas syndrome can result from dominant point mutation alleles of PMP22. |
