Department of Pediatrics, Medical School, University of Zagreb, 10000 Zagreb, Rebro, Kišpatićeva 12, Zagreb, Croatia.
Eur J Paediatr Neurol. 2011 May;15(3):189-96. doi: 10.1016/j.ejpn.2011.03.006. Epub 2011 Apr 17.
Congenital myasthenic syndromes (CMS) are a rare heterogeneous group of inherited neuromuscular disorders associated with distinctive clinical, electrophysiological, ultrastructural and genetic abnormalities. These genetic defects either impair neuromuscular transmission directly or result in secondary impairments, which eventually compromise the safety margin of neuromuscular transmission. In this report we will explore the significant progress made in understanding the molecular pathogenesis of CMS, which is important for both patients and clinicians in terms of reaching a definite diagnosis and selecting the most appropriate treatment.
先天性肌无力综合征（CMS）是一组罕见的异质性遗传性神经肌肉疾病，具有独特的临床、电生理、超微结构和遗传异常。这些遗传缺陷要么直接损害神经肌肉传递，要么导致继发性损害，最终损害神经肌肉传递的安全裕度。在本报告中，我们将探讨对 CMS 分子发病机制的理解所取得的重大进展，这对于患者和临床医生来说，无论是确定诊断还是选择最合适的治疗方法都非常重要。
