CHRNE-related congenital myasthenic syndrome (CMS 4C): familial phenotype and marked response to salbutamol in myasthenic crisis
Case Presentation: A female patient presented with neonatal hypotonia, initially described as a “floppy infant,” followed by lifelong fluctuating bilateral ptosis. In adulthood, she developed progressive proximal lower limb weakness, particularly when climbing stairs, with worsening after pregnancies, as well as interm...