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Congenital myasthenic syndromes: Experiments of nature

被引：7
作者：
Engel, AG
Ohno, K
Sine, SM
机构：
[1] Mayo Clin & Mayo Fdn, Dept Neurol, Rochester, MN 55905 USA
[2] Mayo Clin & Mayo Fdn, Neuromuscular Dis Lab, Rochester, MN 55905 USA
[3] Mayo Clin & Mayo Fdn, Dept Physiol & Biophys, Receptor Biol Lab, Rochester, MN 55905 USA
来源：
JOURNAL OF PHYSIOLOGY-PARIS | 1998年 / 92卷 / 02期
关键词：
congenital myasthenic syndromes; acetylcholine receptor; mutation analysis; expression studies;
D O I：
10.1016/S0928-4257(98)80147-2
中图分类号：
Q189 [神经科学];
学科分类号：
071006 ;
摘要：
Congenital myasthenic syndromes (CMS) can arise from presynaptic, synaptic, or postsynaptic defects. Recent studies indicate that mutations in the acetylcholine receptor (AChR) subunit genes are a common cause of the postsynaptic CMS. The mutations, which increase or decrease the response to acetylcholine, are experiments of nature that highlight functionally significant domains of the AChR. ((C) Elsevier, Paris).
引用
收藏
页码：113 / 117
页数：5
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