Last update 08 May 2025

Myasthenic Syndromes, Congenital

Basic Info

Synonyms
CMS, Congenital Myasthenia, Congenital Myasthenia Gravis
+ [47]
Introduction
A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)

Analysis

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