Congenital myasthenic syndrome in Israel: Genetic and clinical characterization

The objective of the study was to evaluate the epidemiology of patients with congenital myasthenic syndrome (CMS) in Israel. Targeted mutation analysis was performed based on the clinical symptoms and electrophysiological findings for known CMS. Additional specific tests were performed in patients o...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
الحاوية / القاعدة:Neuromuscul Disord
المؤلفون الرئيسيون: Aharoni, Sharon, Sadeh, Menachem, Shapira, Yehuda, Edvardson, Simon, Daana, Muhannad, Dor-Wollman, Talia, Mimouni-Bloch, Aviva, Halevy, Ayelet, Cohen, Rony, Sagie, Liora, Argov, Zohar, Rabie, Malcolm, Spiegel, Ronen, Chervinsky, Ilana, Orenstein, Naama, Engel, Andrew G., Nevo, Yoram
التنسيق: Artigo
اللغة:Inglês
منشور في: 2016
الموضوعات:
Article
الوصول للمادة أونلاين:https://ncbi.nlm.nih.gov/pmc/articles/PMC5280189/
https://ncbi.nlm.nih.gov/pubmed/28024842
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2016.11.014
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