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

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].

Source: Neuromuscular Disorders - February 19, 2019 Category: Neurology Authors: Ceren G ünbey, Kutay Sel, Çağrı Mesut Temuçin, Hayrettin Hakan Aykan, Bahadır Konuşkan, Tevfik Karagöz, Banu Anlar Source Type: research