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ENMyasthenic Syndrome, Congenital, 5 (CMS5)
Alias:
Endplate Acetylcholinesterase Deficiency
Congenital Myasthenic Syndrome 5
Engel Congenital Myasthenic Syndrome
Cms5
Ead
Myasthenic Syndrome, Congenital, Engel Type
Congenital Myasthenic Syndrome Type Ic
Cms Ic
Congenital Myasthenic Syndrome Type Ic, Formerly
Congenital Myasthenic Syndrome Engel Type
End Plate Acetylcholinesterase Deficiency
End-Plate Acetylcholinesterase Deficiency
Synaptic Congenital Myasthenic Syndromes
Synaptic Congenital Myasthenic Syndrome
Myasthenic Syndrome, Congenital, Type 5
Congenital Myasthenic Syndrome Type 1c
Cms Ic, Formerly
Cms1c, Formerly
Cms1c
Cmse
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Myasthenic Syndrome, Congenital, 5, also known as endplate acetylcholinesterase deficiency, is related to congenital ptosis and myasthenia gravis, and has symptoms including ophthalmoparesis An important gene associated with Myasthenic Syndrome, Congenital, 5 is COLQ (Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase), and among its related pathways/superpathways are Transmission across Chemical Synapses and ECM proteoglycans. Affiliated tissues include eye and skeletal muscle, and related phenotypes are generalized muscle weakness and proximal muscle weakness
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