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  • Title: Dejerine-Sottas syndrome and vestibular loss due to a point mutation in the PMP22 gene.
    Author: Jen J, Baloh RH, Ishiyama A, Baloh RW.
    Journal: J Neurol Sci; 2005 Oct 15; 237(1-2):21-4. PubMed ID: 15992829.
    Abstract:
    We describe a father and daughter with Dejerine-Sottas syndrome and bilateral vestibular loss due to an L71P missense mutation in the peripheral myelin protein 22 (PMP22). The combination of vestibular loss and peripheral neuropathy led to profound imbalance at a young age. It is important to recognize this combination of peripheral nerve and vestibular deficits since rehabilitation strategies and prognosis are different.
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