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Keyword - Congenital myasthenic syndrome (KW-1004)


Protein which, if defective, causes congenital myasthenic syndrome. Congenital myasthenic syndromes constitute a group of inherited diseases characterized by a congenital defect in neuromuscular transmission at the neuromuscular junction, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Congenital myasthenic syndromes are characterized by muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort.


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DiseaseCongenital myasthenic syndrome