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...

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Detaylı Bibliyografya
Yayımlandı:Neuromuscul Disord
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2016
Konular:
Article
Online Erişim: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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