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
