Myasthenic Syndrome, Congenital, 1a, Slow-Channel (CMS1A)

Alias:

Congenital Myasthenic Syndrome 1a

Congenital Myasthenic Syndrome 2a

Myasthenic Syndrome, Slow-Channel Congenital

Cms1a

Congenital Myasthenic Syndrome Type Iia

Cms Iia

Cms2a

Sccms

Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel

Congenital Myasthenic Syndrome Post-Synaptic Slow-Channel

Myasthenic Syndrome, Congenital, Type 1a, Slow-Channel

Myasthenic Syndrome, Congenital, Type Iia, Formerly

Congenital Myasthenic Syndrome 1a, Slow-Channel

Congenital Myasthenic Syndrome 2a Slow-Channel

Myasthenic Syndromes, Congenital, Slow Channel

Myasthenic Syndrome, Congenital, Slow-Channel

Cms Iia, Formerly

Cms2a, Formerly

Favorite

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，1a，慢通道，也称为先天性肌无力症1a，与肌无力症，先天性，6，前膜性和肌无力症，先天性，4a，慢通道有关。与肌无力症，先天性，1a，慢通道相关的重要的基因是CHRNA1（乙酰胆碱受体尼古丁α1亚基），其相关通路/超通路包括乙酰胆碱结合和下游事件和神经肌肉接头处的 Agrin 交互作用。相关组织包括骨骼肌和脊髓，相关表型为高腭和上肢肌肉无力。

Related ID：

MALACARDS：MYS046

OMIM：601462

MESH：D020294