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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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| Asıl Yazarlar: | , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
American Academy of Neurology
2009
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| Konular: | |
| Online Erişim: | 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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