No Hot Spot Mutations CHRNE c.1327 delG, CHAT c.914T>C, and RAPSN c.264C>A in Iranian Patients with Congenital Myasthenic Syndrome

 AbstractObjectivesWe aimed to perform genetic testing and clinical data of patients with Congenital Myasthenic Syndrome, a rare disorder caused by mutations in genes encoding molecules expressed in the neuromuscular junction and constitutes fatigable muscle weakness. MethodsSixteen patients were sc...

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Bibliographic Details
Main Authors: Parvizi Omran, Sima, Houshmand, Massoud, Donkor, Dominic, Farjami, Zahra, Karimzadeh, Parvaneh
Format: Online
Published: Iranian Journal of Child Neurology 2019
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