Abstract
Congenital Myasthenia Gravis is congenital inherited disorder of neuromuscular junction. Congenital myasthenia syndromes are classified according to the pathology of the defect: presynaptic, synaptic, and postsynaptic. Here we describe a rare case of Congenital myasthenic Gravis with COLQ mutation (synaptic variant) that results in a inadequacy of acetylcholinesterase (AChE), that extends synaptic currents and action potentials due to prolonged stay of acetylcholine in the synaptic space.
