En heterogen grupp sjukdomar som kännetecknas av en medfödd defekt i signalöverföringen vid nerv-muskelförbindelsen. Dessa kan vara både presynaptiska, synaptiska eller postsynaptiska (som inte har autoimmuna orsaker). De flesta av dessa sjukdomar beror på mutationer av olika underenheter av nikotinacetylkolinreceptorn på kontaktens postsynaptiska yta.
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)
Kongenitala myastena syndrom — Medfödd myasthenia gravis — Medfött myastensyndrom
Myasthenic Syndrome, Congenital — Syndrome, Congenital Myasthenic — Syndromes, Congenital Myasthenic — Congenital Myasthenia — Congenital Myasthenias — Myasthenia, Congenital — Myasthenias, Congenital — Congenital Myasthenia Gravis — Gravi, Congenital Myasthenia — Congenital Myasthenic Syndrome — Congenital Myasthenic Syndromes — Myasthenia Gravis, Congenital — Myasthenic Syndromes, Congenital, Slow Channel — Slow-Channel Congenital Myasthenic Syndrome — Slow Channel Congenital Myasthenic Syndrome — Congenital Slow-Channel Myasthenic Syndrome — Congenital Slow Channel Myasthenic Syndrome — Congenital Slow-Channel Myasthenic Syndromes — Congenital Slow Channel Myasthenic Syndromes — Myasthenic Syndrome, Congenital, Slow-Channel — Slow-Channel Congenital Myasthenic Syndromes — Slow Channel Congenital Myasthenic Syndromes — Congenital Myasthenic Syndromes, Postsynaptic — Postsynaptic Congenital Myasthenic Syndrome — Postsynaptic Congenital Myasthenic Syndromes — Congenital Myasthenic Syndromes, Presynaptic — Presynaptic Congenital Myasthenic Syndrome — Presynaptic Congenital Myasthenic Syndromes