Disease

Congenital Myasthenic Syndrome

About the Disease
Congenital Myasthenic Syndrome, also known as congenital myasthenia, is related to myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency and myasthenic syndrome, congenital, 5, and has symptoms including facial paresis An important gene associated with Congenital Myasthenic Syndrome is CHRNE (Cholinergic Receptor Nicotinic Epsilon Subunit), and among its related pathways/superpathways are Transmission across Chemical Synapses and Postsynaptic nicotinic acetylcholine receptors. The drugs Racephedrine and Adrenergic Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and skeletal muscle, and related phenotypes are ptosis and dysphagia

Common Targets
MUSK | COLQ | MYO9A | ALG2 | COL13A1 | CHRND | AGRN | PLEC | SLC18A3 | CHRNG | CHRNE | GFPT1 | ALPK1 | DOK7 | DNM2 | POGZ | SCN4A | SYT2 | CHAT | CHRNB1 | LAMA1 | SLC5A7 | SLC25A1 | DPAGT1 | ALG14 | Potassium Channels (nonspecified subtype) | DOCK7 | AK9 | GMPPB | LRP4 | CHRNA1 | RAPSN | VAMP1 | LRP6 | LAMA5

疾病靶点研报
Congenital Myasthenic Syndrome

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