Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency (CMS4C)

乙酰胆碱受体缺乏相关的先天性肌无力综合征4C型(来自ICD-11)

别称:

Congenital Myasthenic Syndrome 4c

Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency

Cms4c

Myasthenia, Familial Infantile, 1, Formerly

Myasthenic Syndrome, Congenital, Type Id

Congenital Myasthenic Syndrome Type Id

Cms Id, Formerly

Cms Id

Cms1d

Fim1

Congenital Myasthenic Syndrome with Facial Dysmorphism Associated with Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome Post-Synaptic Associated with Acetylcholine Receptor Deficiency

Myasthenic Syndrome, Congenital, Type 4c, Associated with Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome 4c Associated with Acetylcholine Receptor Deficiency

Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Defi

Congenital Myasthenic Syndrome Type 1d

Congenital Myasthenic Syndrome Type 1e

Congenital Myasthenic Syndrome Type Ie

Myasthenic Syndrome, Congenital, Ie

Myasthenia, Familial Infantile, 1

Familial Infantile Myasthenia 1

Cms1d, Formerly

Fim1, Formerly

Cms-Achrd

Cms Ie

Cms1e

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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

肌无力症，先天性，4c，与乙酰胆碱受体缺乏有关，也称为先天性肌无力症4c，与先天性肌无力症，慢通道和先天性肌无力症有关，症状包括肌肉痉挛，面部麻痹和眼肌麻痹。与肌无力症，先天性，4c，与乙酰胆碱受体缺乏有关的重要基因是CHRNE（乙酰胆碱受体尼古丁ε亚基），其相关通路/超级通路包括哺乳动物ES细胞多能性中的Nanog和乙酰胆碱结合及其下游事件。附属组织包括骨骼肌和舌，相关表型为眼睑下垂和眼肌麻痹。

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