Journal of Electrodiagnosis and Neuromuscular Diseases
First Korean Case of DOK7 Congenital Myasthenic Syndrome Responsive to Ephedrine Therapy
Congenital myasthenic syndromes (CMSs) are a heterogeneous group of genetic neuromuscular disorders caused by pathogenic variants in genes encoding proteins essential for neuromuscular junction development and function. Downstream of tyrosine kinase 7 (DOK7)-related CMS has been reported frequently in Europe, North America, and Japan, but not in Korea. A 7-year-old girl presented with gait disturbance, frequent falls, and difficulty climbing stairs, which had begun at 4 years of age. Examination revealed mild symme …