Congenital myasthenic syndrome caused by two non‐N88K rapsyn mutations

Clinical GeneticsVolume 72, Issue 1 p. 63-65 Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations RA Maselli, Corresponding Author RA Maselli Department of Neurology, University of California Davis, Davis, CA, USARicardo A. Maselli, MDNeurology DepartmentUniversity of California Davis1515 Newton CourtDavis, CA 95618USATel.: +1 530 754 5011Fax: +1 530 754 5036e-mail: [email protected]Search for more papers by this authorH Dris, H Dris Department of Neurology, University of California Davis, Davis, CA, USASearch for more papers by this authorJ Schnier, J Schnier Department of Neurology, University of California Davis, Davis, CA, USASearch for more papers by this authorJL Cockrell, JL Cockrell Department of Neurology, Emanuel Hospital and Health Center, Portland, OR, USASearch for more papers by this authorRL Wollmann, RL Wollmann Department of Pathology, The University of Chicago, Chicago, IL, USASearch for more papers by this author RA Maselli, Corresponding Author RA Maselli Department of Neurology, University of California Davis, Davis, CA, USARicardo A. Maselli, MDNeurology DepartmentUniversity of California Davis1515 Newton CourtDavis, CA 95618USATel.: +1 530 754 5011Fax: +1 530 754 5036e-mail: [email protected]Search for more papers by this authorH Dris, H Dris Department of Neurology, University of California Davis, Davis, CA, USASearch for more papers by this authorJ Schnier, J Schnier Department of Neurology, University of California Davis, Davis, CA, USASearch for more papers by this authorJL Cockrell, JL Cockrell Department of Neurology, Emanuel Hospital and Health Center, Portland, OR, USASearch for more papers by this authorRL Wollmann, RL Wollmann Department of Pathology, The University of Chicago, Chicago, IL, USASearch for more papers by this author First published: 26 June 2007 https://doi.org/10.1111/j.1399-0004.2007.00824.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 Ohno K, Engel AG, Shen X-M et al. Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Am J Hum Genet 2002: 70 (4): 875–885. 2 Burke G, Cossins J, Maxwell S et al. Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. Neurology 2003: 61: 826–828. 3 Maselli RA, Dunne V, Pascual-Pascual SI et al. Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. Muscle Nerve 2003: 28 (3): 293–301. 4 Muller JS, Abicht A, Christen HJ et al. A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome. Neuromuscul Disord 2004: 14 (11): 744–749. 5 Richard P, Gaudon K, Andreux F et al. Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes. J Med Genet 2003: 40: e81. 6 Ohno K, Sadeh M, Blatt I et al. E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome. Hum Mol Genet 2003: 12 (7): 739–748. 7 Muller JS, Baumeister SK, Rasic VM et al. Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations. Neurology 2006: 67 (7): 1159–1164. 8 Ramarao MK, Bianchetta MJ, Lanken J et al. Role of rapsyn tetratricopeptide repeat and coiled-coil domains in self-association and nicotinic acetylcholine receptor clustering. J Biol Chem 2001: 276 (10): 7475–7483. Citing Literature Volume72, Issue1July 2007Pages 63-65 ReferencesRelatedInformation