Abstract.
We describe a Cypriot family in which some family members presented with episodes of pressure palsies, while other family members had a slowly progressive chronic polyneuropathy typical of the Charcot-Marie-Tooth type 1 phenotype. All family members were evaluated clinically, with nerve conduction studies, and with genetic testing. In all affected individuals there was clinical and electrophysiological evidence of diffuse demyelinating sensorimotor polyneuropathy and a novel point mutation in the PMP22 gene (Ser22Phe) was identified.
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Acknowledgement.
This study was supported by the Muscular Dystrophy Association of the USA (K.C.).
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Kleopa, K.A., Georgiou, DM., Nicolaou, P. et al. A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes. Neurogenetics 5, 171–175 (2004). https://doi.org/10.1007/s10048-004-0184-1
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DOI: https://doi.org/10.1007/s10048-004-0184-1