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• W2109794311 abstract "Annals of the New York Academy of SciencesVolume 883, Issue 1 p. 477-480 Heterozygous Null Mutation in the P0 Gene Associated with Mild Charcot-Marie-Tooth Disease D. PAREYSON, Corresponding Author D. PAREYSON Istituto Nazionale Neurologico “C. Besta,” 20133 Milan, ItalyaAddress for correspondence: Davide Pareyson, Department of Neurology, Istituto Nazionale Neurologico “C. Besta,” Via Celoria 11, 20133 Milan, Italy; +39-02-2394-293 (voice, fax); [email protected] (e-mail).Search for more papers by this authorD. MENICHELLA, D. MENICHELLA Department of Neurology, Wayne State University School of Medicine, Detroit, Michigan 48102, USASearch for more papers by this authorS. BOTTI, S. BOTTI Istituto Nazionale Neurologico “C. Besta,” 20133 Milan, ItalySearch for more papers by this authorA. SGHIRLANZONI, A. SGHIRLANZONI Istituto Nazionale Neurologico “C. Besta,” 20133 Milan, ItalySearch for more papers by this authorE. FALLICA, E. FALLICA Istituto Nazionale Neurologico “C. Besta,” 20133 Milan, ItalySearch for more papers by this authorM. MORA, M. MORA Istituto Nazionale Neurologico “C. Besta,” 20133 Milan, ItalySearch for more papers by this authorC. CIANO, C. CIANO Istituto Nazionale Neurologico “C. Besta,” 20133 Milan, ItalySearch for more papers by this authorM. E. SHY, M. E. SHY Department of Neurology, Wayne State University School of Medicine, Detroit, Michigan 48102, USASearch for more papers by this authorF. TARONI, F. TARONI Istituto Nazionale Neurologico “C. Besta,” 20133 Milan, ItalySearch for more papers by this author D. PAREYSON, Corresponding Author D. PAREYSON Istituto Nazionale Neurologico “C. Besta,” 20133 Milan, ItalyaAddress for correspondence: Davide Pareyson, Department of Neurology, Istituto Nazionale Neurologico “C. Besta,” Via Celoria 11, 20133 Milan, Italy; +39-02-2394-293 (voice, fax); [email protected] (e-mail).Search for more papers by this authorD. MENICHELLA, D. MENICHELLA Department of Neurology, Wayne State University School of Medicine, Detroit, Michigan 48102, USASearch for more papers by this authorS. BOTTI, S. BOTTI Istituto Nazionale Neurologico “C. Besta,” 20133 Milan, ItalySearch for more papers by this authorA. SGHIRLANZONI, A. SGHIRLANZONI Istituto Nazionale Neurologico “C. Besta,” 20133 Milan, ItalySearch for more papers by this authorE. FALLICA, E. FALLICA Istituto Nazionale Neurologico “C. Besta,” 20133 Milan, ItalySearch for more papers by this authorM. MORA, M. MORA Istituto Nazionale Neurologico “C. Besta,” 20133 Milan, ItalySearch for more papers by this authorC. CIANO, C. CIANO Istituto Nazionale Neurologico “C. Besta,” 20133 Milan, ItalySearch for more papers by this authorM. E. SHY, M. E. SHY Department of Neurology, Wayne State University School of Medicine, Detroit, Michigan 48102, USASearch for more papers by this authorF. TARONI, F. TARONI Istituto Nazionale Neurologico “C. Besta,” 20133 Milan, ItalySearch for more papers by this author First published: 06 February 2006 https://doi.org/10.1111/j.1749-6632.1999.tb08615.xCitations: 15Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES 1 Warner, L.E., M.J. Hilz, S.H. Appel, et al. 1996. Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron 17: 451–460. 2 Marrosu, M.G., S. Vaccargiu, G. Marrosu, A. Vannelli, C. Cianchetti & F. Muntoni. 1998. Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. Neurology 50: 1397–1401. 3 Chapon, F., B. Lechevalier, S. Schaeffer, et al. 1997. A family presenting with electrophysiological ‘CMT type II’ and linked to P0 gene [abstract]. Neuromusc. Disord. 7: 472. 4 De Jonghe, P., V. Timmerman, C. Ceuterick, et al. 1998. A novel peripheral myelin zero (MPZ) mutation is associated with a clinically distinct Charcot-Marie-Tooth type 2 phenotype [abstract]. J. Neurol. 245: 352. 5 Sghirlanzoni, A., D. Pareyson, M.R. Balestrini, et al. 1992. HMSN III phenotype due to homozygous expression of a dominant HMSN II gene. Neurology 42: 2201–2203. 6 Taroni, F., S. Botti, A. Sghirlanzoni & D. Pareyson. 1996. PMP22 and MPZ point mutations in Italian families with hereditary neuropathy with liability to pressure palsies (HNPP) and Dejerine-Sottas disease (DSD) [abstract]. Am. J. Hum. Genet. 59: A288. 7 Pareyson, D., A. Sghirlanzoni, S. Botti, et al. 1999. Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene [letter]. Neurology 52: 1110–1111. 8 Martini, R., J. Zielasek, K.V. Toyka, K.P. Giese & M. Schachner. 1995. Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies. Nat. Genet. 11: 281–286. 9 Shy, M.E., E. Arroyo, J. Sladky, et al. 1997. Heterozygous P0 knockout mice develop a peripheral neuropathy that resembles chronic inflammatory demyelinating polyneuropathy (CIDP). J. Neuropathol. Exp. Neurol. 56: 811–821. Citing Literature Volume883, Issue1CHARCOT‐MARIE‐TOOTH DISORDERSOctober 1999Pages 477-480 ReferencesRelatedInformation" @default.
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