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中文Myasthenic Syndrome, Congenital, 4a, Slow-Channel (CMS4A)
Alias:
Congenital Myasthenic Syndrome 4a
Cms4a
Myasthenia, Familial Infantile, 1
Cms Ia1
Cms1a1
Myasthenic Syndrome, Congenital, Type 4a, Slow-Channel
Congenital Myasthenic Syndrome Type Ia1, Formerly
Congenital Myasthenic Syndrome 4a Slow-Channel
Congenital Myasthenic Syndrome Type Ia1
Congenital Myasthenic Syndrometype Ia1
Cms Ia1, Formerly
Cms1a1, Formerly
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肌无力症，先天性，4a，慢通道，也称为先天性肌无力症4a，与肌无力症，先天性，4c，与乙酰胆碱受体缺乏和肌无力症，先天性，1b，快通道有关。与肌无力症，先天性，4a，慢通道有关的重要基因是CHRNE（乙酰胆碱受体尼古丁ε亚基）。附属组织包括骨骼肌，相关表型是emg：重复神经刺激复合肌肉动作电位的递减反应和眼睑下垂
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