Cardiac Autonomic Function Evaluation in Pediatric and Adult Patients with Congenital Myasthenic Syndromes

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Congenital myasthenic syndromes (CMS) are genetically inherited defects of the neuromuscular junction (NMJ) resulting in weakness and fatigability in skeletal, extraocular or bulbar muscles [1, 2]. They are divided into three groups according to the site of the defect: presynaptic, synaptic, or postsynaptic, the latter being the most common. The nicotinic acetylcholine receptor (nAChR) in the human NMJ is a pentameric complex composed of four subunits: two alpha, one beta, and one epsilon (ε) or delta subunit [1, 2].

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