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Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible "hot spot" on Ser72
W Marques1, P K Thomas, M G Sweeney
1Department of Clinical Neurology, Institute of Neurology, London, UK.
Annals of Neurology
|May 19, 1998
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.