Dok-7 mutations underlie a neuromuscular junction synaptopathy
Dok-7 mutations underlie a neuromuscular junction synaptopathy
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DOI：
10.1126/science.1130837
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发表时间：
2006-09-29
期刊：
影响因子：
56.9
通讯作者：
Yamanashi, Yuji
中科院分区：
文献类型：
--
作者：
Beeson, David;Higuchi, Osamu;Yamanashi, Yuji
先天性肌无力综合征(CMSS)是一组以疲劳性肌肉无力为特征的遗传性神经肌肉传递障碍。一大类患者表现出一种典型的“肢体带状”肌肉无力模式，即肌肉有细小、简化的神经肌肉连接，但乙酰胆碱受体和乙酰胆碱酯酶功能正常。我们表明，DOK-7突变的隐性遗传导致神经肌肉连接结构缺陷，是CMS伴近端肌肉无力的原因之一。
Congenital myasthenic syndromes (CMSs) are a group of inherited disorders of neuromuscular transmission characterized by fatigable muscle weakness. One major subgroup of patients shows a characteristic "limb girdle'' pattern of muscle weakness, in which the muscles have small, simplified neuromuscular junctions but normal acetylcholine receptor and acetylcholinesterase function. We showed that recessive inheritance of mutations in Dok-7, which result in a defective structure of the neuromuscular junction, is a cause of CMS with proximal muscle weakness.