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Slow-Channel Congenital Myasthenic Syndrome Due to CHRND Mutation in South Korea
대한신경과학회 (Korean Neurological Association)|2025.09|Journal of Clinical Neurology|제21권 제5호|pp. 464-466
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CHRNA1 유전자변이와 연관된 선천근무력증후군정훈, 김재형, 박진성, 안준우, 황수경대한신경과학회 · 대한신경과학회지2021 · 제39권 제3호Therapeutic Management in an AGRN-Related Congenital Myasthenic Syndrome PatientAhmet Yusuf Erturk, Ihsan Sukru Sengun, Ipek Kurt, Orkhan Mammadov대한신경과학회 · Journal of Clinical Neurology2026 · 제22권 제1호Identification of a Dysferlin Gene Mutation in a Korean Case with Miyoshi Myopathy김태승, 오승헌, 최영철연세대학교의과대학 · Yonsei Medical Journal2004 · 제45권 제5호A Novel KCND3 Variant in a Korean Family With SCA19강희영, 권오영, 김민경, 오승환, 이찬현, 정보라, 하홍민대한신경과학회 · Journal of Clinical Neurology2022 · 제18권 제1호표현형 차이를 보인 CLCN1유전자(p.A313T)돌연변이를 가진 한국인 선천근긴장증 가족박진성, 신진홍, 황선재대한신경과학회 · 대한신경과학회지2016 · 제34권 제3호X-linked Charcot-Marie-Tooth 환자에서 새로이 발견된 Connexin32 유전자의 Missense 돌연변이 Cys168Arg김용재, 박기덕, 이미선, 정기화, 최경규, 최병옥, 황정희, 선우일남대한신경과학회 · 대한신경과학회지2004 · 제22권 제1호
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