کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3054081 1580040 2011 8 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes
چکیده انگلیسی

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.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Paediatric Neurology - Volume 15, Issue 3, May 2011, Pages 189–196
نویسندگان
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