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.

MUHAMMAD SAEED, ALI QURAISHI. (2020) Congenital Myasthenic Syndrome Type IV: A rare Neuromuscular Disorder, , Volume 44, Issue 4.
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