Lecky B R, Morgan-Hughes J A, Murray N M, Landon D N, Wray D, Prior C
Muscle Nerve. 1986 Mar-Apr;9(3):233-42. doi: 10.1002/mus.880090307.
The findings in two cases of congenital myasthenia investigated by intercostal muscle biopsy are presented. The first case, a 16-year-old boy, showed reduced miniature endplate potential amplitude and normal 125I-alpha-bungarotoxin binding to postsynaptic acetylcholine receptors. Muscle biopsy and endplate ultrastructure were normal. Tubocurarine affinity, ion channel properties, and passive membrane properties were normal. Limited data showed reduced effectiveness of applied acetylcholine in opening ion channels. The second case was an 18-year-old girl with consanguineous parents. Type 2 muscle fiber atrophy was seen in both limb and intercostal muscle. Intercostal endplates were elongated, although ultrastructure was normal. Negligible postsynaptic alpha-bungarotoxin binding suggested an abnormality of the acetylcholine receptor macromolecule.
本文报告了两例经肋间肌活检研究的先天性肌无力病例的研究结果。第一例为一名16岁男孩，其微小终板电位振幅降低，而125I-α-银环蛇毒素与突触后乙酰胆碱受体的结合正常。肌肉活检和终板超微结构均正常。筒箭毒碱亲和力、离子通道特性和被动膜特性均正常。有限的数据显示，应用的乙酰胆碱在打开离子通道方面的有效性降低。第二例是一名18岁女孩，其父母为近亲。在四肢肌肉和肋间肌中均可见2型肌纤维萎缩。肋间终板延长，尽管超微结构正常。突触后α-银环蛇毒素结合可忽略不计，提示乙酰胆碱受体大分子存在异常。
