Boonyapisit K, Kaminski H J, Ruff R L
Department of Neurology, Case Western Reserve University School of Medicine, Department of Veterans Affairs Medical Center in Cleveland, University Hospitals of Cleveland, Ohio 44106, USA.
Am J Med. 1999 Jan;106(1):97-113. doi: 10.1016/s0002-9343(98)00374-x.
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.
离子通道缺陷会引发一系列临床症状多样的疾病，从囊性纤维化和某些类型的偏头痛到肾小管缺陷和发作性共济失调。本综述讨论了与骨骼肌乙酰胆碱受体和运动神经末梢钙通道功能受损相关的疾病。重症肌无力是一种自身免疫性疾病，由针对骨骼肌乙酰胆碱受体的抗体引起，会损害神经肌肉传递。先天性肌无力是遗传性疾病，其中一部分是由乙酰胆碱受体突变引起的。兰伯特-伊顿肌无力综合征是一种免疫性疾病，其特征是突触小泡释放受损，可能与钙内流缺陷有关。这些疾病将阐明与所有离子通道疾病相关的突触传递和离子通道结构的新见解。
