Article
Absence of mutations in peripheral myelin protein-22, myelin protein zero, and connexin 32 in autosomal recessive Dejerine-Sottas syndrome.
Neuroscience letters - 2 Jan 1998
Stögbauer F, Young P, Wiebusch H, Timmerman V, Kuhlenbäumer G, Nelis E, Ringelstein E B, Kurlemann G, Assmann G, Van Broeckhoven C, Funke H
Abstract excerpt
Motor and sensory neuropathies with the clinical features of HMSN III (Dejerine-Sottas syndrome, DSS) are etiologically related to heterozygous mutations in either peripheral myelin protein-22 (PMP22) or myelin protein zero (MPZ). Heterozygous mutations in either of these two genes are also responsible for other hereditary peripheral neuropathies (HNPP, CMT1A, CMT1B or CH). In two families DSS was related to the...
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