Myasthenic 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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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

先天性重症肌无力5型，又称乙酰胆碱酯酶突触后膜缺陷，与先天性眼睑下垂和重症肌无力有关，症状包括眼肌麻痹。与先天性重症肌无力5型相关的重要基因是COLQ（不对称乙酰胆碱酯酶的胶原样尾部亚基），其相关通路/超通路包括化学突触的传递和ECM蛋白多糖。相关组织包括眼睛和骨骼肌，相关表型为全身肌肉无力和近端肌肉无力。

Related ID：

MALACARDS：MYS051

OMIM：603034

MESH：D020294