Abstract:Introduction and purpose:
Muscle weakness in newborns, infants and young children can be caused by disorders of the neuromuscular junction (NMJ). Congenital myasthenic syndromes (CMS) are a group of rare genetic diseases whose symptoms resemble the clinical picture of autoimmune myasthenia gravis. There are many mutations that can disrupt the neuromuscular transmission leading to pathology. The diagnosis of CMS is based on genetic testing. The aim of this study is to draw clinicians' attention to the sym… Show more
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