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Yunjung Choi

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Open access Aug 2026

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 Ame...

Sangwon Joe, M. Choi, Yunjung Choi et al. · 0 citations

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