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  • Title: Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible "hot spot" on Ser72.
    Author: Marques W, Thomas PK, Sweeney MG, Carr L, Wood NW.
    Journal: Ann Neurol; 1998 May; 43(5):680-3. PubMed ID: 9585367.
    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.
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