A genetic and functional investigation of inherited neuropathies : Charcot-Marie Tooth disease and Brown-Vialetto-Van Laere syndrome

Charcot-Marie-Tooth (CMT) disease and Brown-Vialetto-Van Laere syndrome (BVVL) are two inherited neuropathies. Although most CMT type 1A patients carry the same sized duplication containing the peripheral myelin protein 22 (PMP22) gene, they present with a wide range of severities both within and be...

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Bibliographic Details
Main Author: Pandraud, A.
Published: University College London (University of London) 2014
Subjects:
Online Access:http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.634670