Abstract
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, CMT1 A, 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.
Original language | English (US) |
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Pages (from-to) | 269-273 |
Number of pages | 5 |
Journal | Nature Genetics |
Volume | 5 |
Issue number | 3 |
DOIs | |
State | Published - Nov 1993 |
ASJC Scopus subject areas
- Genetics