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Genetic Basis of Congenital Myasthenic Syndrome: A Review Study
2019
Journal of Advanced Medical Sciences and Applied Technologies
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.
doi:10.32598/jamsat.3.4.179
fatcat:hecs7oq4ybhkllbhrbcyujl454