Zahra Farjami, Negar Khodaenia, Neshat Ebrahimi, Gholamreza Zamani, Amir Hosein Ashnaei, Mohammad Galehdari, Mehdi Moradyar, Massoud Houshmand
Congenital myasthenic syndrome (CMS) refers to a heterogeneous group of inherited disorders, characterized by defective transmissionat the neuromuscular junction (NMJ). Patients with CMS showed similar muscle weakness, while other clinical manifestations are mostly dependent on genetic factors. This disease,caused bydifferent DNA mutations, is genetically inherited. It is also associated with mutations of genes at NMJ, involving the acetylcholine receptor (AChR) subunits. Here, we present the case ofa five-year-old Iranian boywith CMS, undergoingtargeted sequencing of a panel of genes, associated with arthrogryposis and CMS...
2020: Iranian Journal of Child Neurology