TY - JOUR ID - 42509 TI - Genetic Basis of Congenital Myasthenic Syndrome: A Review Study JO - Journal of Advanced Medical Sciences and Applied Technologies JA - JAMSAT LA - en SN - 2423-5903 AU - Mohammadi, Pouria AU - Salar Zaheryani, Seyed Mohammad AD - Research Center for Molecular Medicine, Hamadan University of Medical Sciences, Hamadan, Iran. AD - Poostchi Eye Research Center, Shiraz University of Medical Sciences, Shiraz, Iran. Y1 - 2017 PY - 2017 VL - 3 IS - 4 SP - 179 EP - 188 KW - Congenital myasthenic syndromes KW - Synaptic transmission KW - Mutation KW - Neuromuscular junction KW - Ophthalmoplegia DO - 10.32598/jamsat.3.4.179 N2 - The neuromuscular junction is a highly specialized cholinergic synapse, essential for initiating nerve-evoked muscle contractions by means of neuromuscular transmission. Loss or dysfunction of any component of this junction might affect synaptic performance. Congenital Myasthenic Syndromes (CMSs) are rare heterogeneous disorders of autosomal inheritance caused by genetic defects affecting neuromuscular transmission that results in skeletal muscle weakness and abnormal fatigability on exertion.  The onset is usually from birth to childhood. CMSs are more uncommon than autoimmune myasthenia gravis. CMSs are classified based on their genetic and clinical presentations into presynaptic, synaptic basal lamina, and postsynaptic CMSs. To date, mutations in more than 25 genes have been implicated in the pathogenesis of CMSs. In this review article, different CMSs diagnostic procedures are investigated, and the genetic, clinical, and molecular aspects of CMSs are outlined. UR - https://jamsat.sums.ac.ir/article_42509.html L1 - https://jamsat.sums.ac.ir/article_42509_c5c897cebc9676c31099717b38f62f38.pdf ER -