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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Enregistré dans:
Détails bibliographiques
Publié dans:Neuromuscul Disord
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: 2016
Sujets:
Article
Accès en ligne: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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