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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Sparad:
Bibliografiska uppgifter
I publikationen:Neuromuscul Disord
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2016
Ämnen:
Article
Länkar: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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