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

OBJECTIVES: We 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. MATERIALS & METHODS: Sixteen patie...

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Detalles Bibliográficos
Autores principales: PARVIZI OMRAN, Sima, HOUSHMAND, Massod, DOMINIC, Donkor, FARJAMI, Zahra, KARIMZADEH, Parvaneh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Beheshti University of Medical Sciences 2019
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451864/
https://www.ncbi.nlm.nih.gov/pubmed/31037086

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451864/
https://www.ncbi.nlm.nih.gov/pubmed/31037086

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