Dejerine-sottas neuropathy and PMP22 point mutations: A new base pair substitution and a possible ?hot spot? on Ser72
- 1 May 1998
- journal article
- case report
- Published by Wiley in Annals of Neurology
- Vol. 43 (5) , 680-683
- https://doi.org/10.1002/ana.410430521
Abstract
The occurrence of mutations in peripheral myelin protein 22 is one of the genetic mechanisms associated with Dejerine-Sottas neuropathy (DSN). On direct sequencing 2 of such patients we have found the first mutation in the third transmembrane domain associated with this neuropathy and the fourth Ser72Leu. We propose that the Ser72 may be a "hot spot" for DSN and that this should be considered for molecular analysis.Keywords
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