Inserm, U975, Centre de recherche de l'Institut du Cerveau et de la Moelle épinière, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Curr Opin Neurol. 2013 Oct;26(5):561-8. doi: 10.1097/WCO.0b013e328364dc0f.
Congenital myasthenic syndromes (CMSs) form a heterogeneous group of genetic diseases characterized by a dysfunction of neuromuscular transmission because of mutations in numerous genes. This review will focus on the causative genes recently identified and on the therapy of CMSs.
Advances in exome sequencing allowed the discovery of a new group of genes that did not code for the known molecular components of the neuromuscular junction, and the definition of a new group of glycosylation-defective CMS. Rather than the specific drugs used, some of them having been known for decades, it is the rigorous therapeutic strategy that is now offered to the patient in relation to the identified mutated gene that is novel and promising.
In addition to the above main points, we also present new data on the genes that were already known with an emphasis on the clinic and on animal models that may be of use to understand the pathophysiology of the disease. We also stress not only the diagnosis difficulties between congenital myopathies and CMSs, but also the continuum that may exist between the two.
先天性肌无力综合征（CMSs）是一组遗传性疾病，其特征为神经肌肉传递功能障碍，病因是众多基因发生突变。本文将重点介绍最近发现的 CMS 致病基因和治疗方法。
外显子组测序的进展发现了一组新的基因，这些基因不编码已知的神经肌肉接头的分子成分，也定义了一组新的糖基化缺陷型 CMS。与特定的药物相比，这些药物中的一些已经使用了几十年，现在为患者提供的是与已鉴定的突变基因相关的严格治疗策略，这是新颖且有前途的。
除了上述要点外，我们还介绍了已有的基因的新数据，重点介绍了可能有助于了解疾病病理生理学的临床和动物模型。我们还强调了不仅是先天性肌病和 CMS 之间的诊断困难，还强调了两者之间可能存在的连续统。
