先天性终板乙酰胆碱酯酶缺乏症的谱系 - Suppr | 超能文献

The spectrum of congenital end-plate acetylcholinesterase deficiency.

作者信息

Hutchinson D O, Engel A G, Walls T J, Nakano S, Camp S, Taylor P, Harper C M, Brengman J M

机构信息

Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905.

出版信息

Ann N Y Acad Sci. 1993 Jun 21;681:469-86. doi: 10.1111/j.1749-6632.1993.tb22931.x.

DOI:10.1111/j.1749-6632.1993.tb22931.x

Abstract

摘要

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The spectrum of congenital end-plate acetylcholinesterase deficiency.先天性终板乙酰胆碱酯酶缺乏症的谱系

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A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release.一种新的肌无力综合征，伴有终板乙酰胆碱酯酶缺乏、神经末梢细小及乙酰胆碱释放减少。

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引用本文的文献

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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

Patients with congenital myasthenia associated with end-plate acetylcholinesterase deficiency show normal sequence, mRNA splicing, and assembly of catalytic subunits.患有与终板乙酰胆碱酯酶缺乏相关的先天性肌无力的患者，其催化亚基的序列、mRNA剪接和组装均正常。

J Clin Invest. 1995 Jan;95(1):333-40. doi: 10.1172/JCI117661.