A Novel c.973G>T Mutation in the ε-subunit of the Acetylcholine Receptor Causing Congenital Myasthenic Syndrome in an Iranian Family

Congenital myasthenic syndrome (CMS) constitutes a group of inherited disorders of neuromuscular junctions. The majority of postsynaptic syndromes result from mutations in the CHRNE gene that causes muscle nicotine acetylcholine deficiency. In this study, we report on a 2 and a half-year-old boy wit...

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Detalles Bibliográficos
Autores principales: Karimzadeh, P, Parvizi Omran, S, Ghaedi, H, Omrani, MD
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714341/
https://www.ncbi.nlm.nih.gov/pubmed/31523627
http://dx.doi.org/10.2478/bjmg-2019-0010

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714341/
https://www.ncbi.nlm.nih.gov/pubmed/31523627
http://dx.doi.org/10.2478/bjmg-2019-0010

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