neuromuscular channelopathies in children

نویسندگان

محمود محمدی

mohammad mohammadi professor of pediatric neurology, tehran university of medical sciences,

چکیده

channelopathies are disturbances of the cellular membrane channels function. ion channels are actually membrane-bound proteins that perform key functions in virtually all human cells. these channels play pivotal role in the function of excitable tissues such as muscle and nerve. so channelopathies are diverse clinical entities involving many organs and systems (i.e., endocrine, respiratory, gastrointestinal as well as some other systems). our knowledge about these disorders is now expanding and an increasing number of human diseases associated with dysfunctional ion channels are now recognized. in neuromuscular system some of these diseases are genetically mediated while the others are immunologically induced. in my talk, i will address some of these disorders in children mainly involving neuromuscular junction as well as muscle itself. i will also emphasize on differential diagnosis, clinical, electrophysiologic, genetic and autoimmune aspects of these expanding group of disorders mainly in pediatric patients.

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عنوان ژورنال:
genetics in the 3rd millennium

جلد ۶، شماره ۳، صفحات ۱۳۹۷-۱۳۹۷

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