A novel c.973G>T mutation in the ε-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family

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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Bibliographic Details
Main Authors: Karimzadeh P, Parvizi Omran S, Ghaedi H, Omrani MD
Format: Article
Language:English
Published: Sciendo 2019-08-01
Series:Balkan Journal of Medical Genetics
Subjects:
congenial myasthenic syndrome (cms)
neuromuscular junction
chrne gene
Online Access:https://doi.org/10.2478/bjmg-2019-0010

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