Disorders of neuromuscular junction ion channels

被引:30
作者
Boonyapisit, K
Kaminski, HJ
Ruff, RL
机构
[1] Case Western Reserve Univ, Sch Med, Dept Neurol, Cleveland, OH 44106 USA
[2] Case Western Reserve Univ, Sch Med, Dept Neurosci, Cleveland, OH 44106 USA
[3] Dept Vet Affairs Med Ctr, Cleveland, OH USA
[4] Univ Hosp Cleveland, Dept Neurol, Cleveland, OH 44106 USA
基金
美国国家卫生研究院;
关键词
D O I
10.1016/S0002-9343(98)00374-X
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Ion channel defects produce a clinically diverse set of disorders that range from cystic fibrosis and some forms of migraine to renal tubular defects and episodic ataxias. This review discusses diseases related to impaired function of the skeletal muscle acetylcholine receptor and calcium channels of the motor nerve terminal. Myasthenia gravis is an autoimmune disease caused by antibodies directed toward the skeletal muscle acetylcholine receptor that compromise neuromuscular transmission. Congenital myasthenias are genetic disorders, a subset of which are caused by mutations of the acetylcholine receptor. Lambert-Eaton myasthenic syndrome is an immune disorder characterized by impaired synaptic vesicle release likely related to a defect of calcium influx. The disorders will illustrate new insights into synaptic transmission and ion channel structure that are relevant for all ion channel disorders. Am J Med. 1999;106:97-113. (C) 1999 by Excerpta Medica, Inc.
引用
收藏
页码:97 / 113
页数:17
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