Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes

作者：Barisic Nina^*; Chaouch Amina; Mueller Juliane S; Lochmueller Hanns

来源：European Journal of Paediatric Neurology, 2011, 15(3): 189-196.

DOI：10.1016/j.ejpn.2011.03.006

• Congenital myasthenic syndromes
• Neuromuscular synapse
• Genetics
• Pathogenesis
• Treatment

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.

• 出版日期2011-5