Myasthenic Syndrome, Congenital, 6, Presynaptic (CMS6)

先天性突触前性肌无力６型(来自ICD-11)

别称:

Familial Infantile Myasthenia

Cmsea

Cms6

Myasthenic Syndrome, Congenital, Associated with Episodic Apnea

Familial Infantile Myasthenia Gravis 2

Congenital Myasthenic Syndrome 6

Fimg2

Myasthenic Syndrome, Presynaptic, Congenital, Associated with Episodic Apnea

Congenital Myasthenic Syndrome Pre-Synaptic Associated with Episodic Apnea

Congenital Presynaptic Myasthenic Syndrome Associated with Episodic Apnea

Myasthenic Syndrome, Congenital, Type 6, Presynaptic

Myasthenia Gravis, Familial Infantile, 2, Formerly

Congenital Myasthenic Syndrome Type Ia2, Formerly

Congenital Myasthenic Syndrome 6, Presynaptic

Myasthenia, Familial Infantile, Formerly

Congenital Myasthenic Syndrome Type Ia2

Congenital Myasthenic Syndrome Type 1a

Congenital Myasthenic Syndrome Type Ia

Cms Ia2, Formerly

Cms1a2, Formerly

Fimg2, Formerly

Fim, Formerly

Cms Ia2

Cms1a2

Cms-Ea

Cms Ia

Cms1a

Fim

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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6型，前接头（也称为家族性婴儿重症肌无力），与先天性重症肌无力12型和先天性重症肌无力1a型，慢通道，有关，症状包括呼吸暂停、呼吸困难和眼肌麻痹。与先天性重症肌无力6型，前接头相关的基因是CHAT（胆碱O-乙酰转移酶），其相关通路/超级通路包括化学突触传递和神经递质释放周期。相关组织包括骨骼肌，相关表型为易疲劳无力和延髓麻痹。

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