Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients

BACKGROUND: Pathogenic mutations in rapsyn result in endplate acetylcholine receptor (AChR) deficiency and are a common cause of postsynaptic congenital myasthenic syndromes. METHODS: Clinical, electrophysiologic, pathologic, and molecular studies were done in 39 patients. RESULTS: In all but one pa...

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Main Authors: Milone, M, Shen, X M., Selcen, D, Ohno, K, Brengman, J, Iannaccone, S T., Harper, C M., Engel, A G.
格式: Artigo
語言:Inglês
出版: American Academy of Neurology 2009
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC2715575/
https://ncbi.nlm.nih.gov/pubmed/19620612
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3181ae7cbc
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