Engel A G, Ohno K, Sine S M
Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.
J Physiol Paris. 1998 Apr;92(2):113-7. doi: 10.1016/S0928-4257(98)80147-2.
Congenital myasthenic syndromes (CMS) can arise from presynaptic, synaptic, or postsynaptic defects. Recent studies indicate that mutations in the acetylcholine receptor (AChR) subunit genes are a common cause of the postsynaptic CMS. The mutations, which increase or decrease the response to acetylcholine, are experiments of nature that highlight functionally significant domains of the AChR.
先天性肌无力综合征（CMS）可由突触前、突触或突触后缺陷引起。最近的研究表明，乙酰胆碱受体（AChR）亚基基因突变是突触后CMS的常见原因。这些增加或减少对乙酰胆碱反应的突变是自然实验，突出了AChR的功能重要结构域。
