Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes.
نویسندگان
چکیده
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.
منابع مشابه
Congenital myasthenic syndromes.
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ورودعنوان ژورنال:
- European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
دوره 15 3 شماره
صفحات -
تاریخ انتشار 2011