Mutations causing muscle weakness.
作者信息
Lindstrom J
机构信息
Department of Neuroscience, Medical School of the University of Pennsylvania, 217 Stemmler Hall, Philadelphia, PA 19104-6074, USA.
出版信息
Proc Natl Acad Sci U S A. 1998 Aug 4;95(16):9070-1. doi: 10.1073/pnas.95.16.9070.
Abstract
摘要
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Proc Natl Acad Sci U S A. 1998 Aug 4;95(16):9070-1. doi: 10.1073/pnas.95.16.9070.
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本文引用的文献
1
Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme.由不对称酶的胶原样尾部亚基（ColQ）突变引起的人类终板乙酰胆碱酯酶缺乏症。
Proc Natl Acad Sci U S A. 1998 Aug 4;95(16):9654-9. doi: 10.1073/pnas.95.16.9654.
2
Autoimmune and genetic disorders at the neuromuscular junction. The 1997 Ronnie Mac Keith lecture.神经肌肉接头处的自身免疫性和遗传性疾病。1997年罗尼·麦克·基思讲座。
Dev Med Child Neurol. 1998 Mar;40(3):199-206. doi: 10.1111/j.1469-8749.1998.tb15448.x.
3
Nicotinic acetylcholine receptors in health and disease.健康与疾病中的烟碱型乙酰胆碱受体
Mol Neurobiol. 1997 Oct;15(2):193-222. doi: 10.1007/BF02740634.
4
The mammalian gene of acetylcholinesterase-associated collagen.乙酰胆碱酯酶相关胶原蛋白的哺乳动物基因。
J Biol Chem. 1997 Sep 5;272(36):22840-7. doi: 10.1074/jbc.272.36.22840.
5
An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy.一个常染色体显性遗传性夜间额叶癫痫家族中CHRNA4基因的插入突变。
Hum Mol Genet. 1997 Jun;6(6):943-7. doi: 10.1093/hmg/6.6.943.
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End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit.由于ε亚基中的无义突变导致终板乙酰胆碱受体缺乏。
Ann Neurol. 1996 Nov;40(5):810-7. doi: 10.1002/ana.410400521.
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Toward a structural basis for the function of nicotinic acetylcholine receptors and their cousins.探寻烟碱型乙酰胆碱受体及其同类物功能的结构基础。
Neuron. 1995 Dec;15(6):1231-44. doi: 10.1016/0896-6273(95)90004-7.
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Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia.抑制性甘氨酸受体α1亚基的突变会导致显性神经系统疾病——惊跳症。
Nat Genet. 1993 Dec;5(4):351-8. doi: 10.1038/ng1293-351.
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J Clin Invest. 1995 Jan;95(1):333-40. doi: 10.1172/JCI117661.
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