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Identification of a 4 bp deletion (1560de14) in Po gene in a family with severe charcot-Marie-Tooth disease

1996; Wiley; Volume: 7; Issue: 4 Linguagem: Inglês

10.1002/humu.1380070403

1098-1004

Emilia Bellone, Paola Mandich, Rosella James, Eva Nelis, Laura Doria Lamba, Christine Van Broeckhoven, Franco Ajmar,

Hereditary Neurological Disorders

Human MutationVolume 7, Issue 4 p. 377-378 Mutation Note Identification of a 4 bp deletion (1560de14) in Po gene in a family with severe charcot-Marie-Tooth disease Emilia Bellone, Corresponding Author Emilia Bellone Institute of Biology and Genetics (IBiG), University of Genoa, 16132 Genoa, Italy Fax: 39-10-3538978Institute of Biology and Genetics (IBiG), University of Genoa, 16132 Genoa, Italy Fax: 39-10-3538978Search for more papers by this authorPaola Mandich, Paola Mandich Institute of Biology and Genetics (IBiG), University of Genoa, 16132 Genoa, Italy Fax: 39-10-3538978Search for more papers by this authorRosella James, Rosella James Institute of Biology and Genetics (IBiG), University of Genoa, 16132 Genoa, Italy Fax: 39-10-3538978Search for more papers by this authorEva Nelis, Eva Nelis Department of Biochemistry, B-2610 Antwerpen, Belgium Fax: 39-10-3538978Search for more papers by this authorLaura Doria Lamba, Laura Doria Lamba Divisione e Cattedra di Neuropsichiatria Infantile, University of Genoa Institute G. Gaslini, 16148 Genoa, Italy Fax: 39-10-3538978Search for more papers by this authorChristine Van Broeckhoven, Christine Van Broeckhoven Department of Biochemistry, B-2610 Antwerpen, Belgium Fax: 39-10-3538978Search for more papers by this authorFranco Ajmar, Franco Ajmar Institute of Biology and Genetics (IBiG), University of Genoa, 16132 Genoa, Italy Fax: 39-10-3538978Search for more papers by this author Emilia Bellone, Corresponding Author Emilia Bellone Institute of Biology and Genetics (IBiG), University of Genoa, 16132 Genoa, Italy Fax: 39-10-3538978Institute of Biology and Genetics (IBiG), University of Genoa, 16132 Genoa, Italy Fax: 39-10-3538978Search for more papers by this authorPaola Mandich, Paola Mandich Institute of Biology and Genetics (IBiG), University of Genoa, 16132 Genoa, Italy Fax: 39-10-3538978Search for more papers by this authorRosella James, Rosella James Institute of Biology and Genetics (IBiG), University of Genoa, 16132 Genoa, Italy Fax: 39-10-3538978Search for more papers by this authorEva Nelis, Eva Nelis Department of Biochemistry, B-2610 Antwerpen, Belgium Fax: 39-10-3538978Search for more papers by this authorLaura Doria Lamba, Laura Doria Lamba Divisione e Cattedra di Neuropsichiatria Infantile, University of Genoa Institute G. Gaslini, 16148 Genoa, Italy Fax: 39-10-3538978Search for more papers by this authorChristine Van Broeckhoven, Christine Van Broeckhoven Department of Biochemistry, B-2610 Antwerpen, Belgium Fax: 39-10-3538978Search for more papers by this authorFranco Ajmar, Franco Ajmar Institute of Biology and Genetics (IBiG), University of Genoa, 16132 Genoa, Italy Fax: 39-10-3538978Search for more papers by this author First published: 1996 https://doi.org/10.1002/humu.1380070403Citations: 12AboutPDF 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 No abstract is available for this article. References Ding Y, Brunden KR (1994) The cytoplasmic domain of myelin glycoprotein Po interacts with negatively charged phospholipid bilayers. J Biol Chem 269: 10764– 10770. Kirschner DA, Saavedra RA (1994) Mutations in demyelinating peripheral neuropathies support molecular model of myelin Po-glycoprotein extracellular domain. J Neurosci Res 39: 63– 69. Pham-Dinh D, Fourbil Y, Blanquet F, Matti MG, Roeckel N, Latour P, Chazot G, Vandenberghe A, Dautigny A (1993) The major peripheral myelin protein zero gene: Structure and localization in the cluster of Fcy receptor genes on human chromosome 1q21.3-q23. Hum Mol Genet 2: 2051– 2054. Rautenstrauss B, Nelis E, Grehl H, Pfeiffer RA, Van Broeckhoven C (1994) Identification of a de novo insertional mutation in Po in a patient with a Dejerine-Sottas syndrome (DDS) phenotype. Hum Mol Genet 3: 1701– 1702. Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, Snipes GJ, Shooter EM, Patel PI, Lupski JR (1993) Charcot-Marie-Tooth disease type 1A: Association with a spontaneous point mutation in the PMP22 gene. N Engl J Med 329: 96– 101. Valentijn LJ, Ouvrier RA, van den Bosch NHA, Bolhuis PA, Baas F, Nicholson GA (1995) Dejerine-Sottas neuropathy is associated with a de novo mutation. Hum Mutat 5: 76– 80. Citing Literature Volume7, Issue41996Pages 377-378 ReferencesRelatedInformation