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DeCS
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Descriptor English:
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Myasthenic Syndromes, Congenital
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Descriptor Spanish:
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Síndromes Miasténicos Congénitos
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Descriptor Portuguese:
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Síndromes Miastênicas Congênitas
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Synonyms English:
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Myasthenic Syndromes, Congenital, Slow Channel
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Tree Number:
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C10.668.758.800
C16.320.590
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Definition English:
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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) |
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Indexing Annotation English:
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do not confuse with MYASTHENIA GRAVIS, NEONATAL, a transient condition seen in neonates born to myasthenic mothers
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See Related English:
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Myasthenia Gravis
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History Note English:
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2000
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Allowable Qualifiers English:
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Record Number:
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34336
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Unique Identifier:
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D020294
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Occurrence in VHL:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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