논문KCI 등재
A Mutation in the ACTA1 gene Manifesting Nemaline Myopathy with Central Nervous System Lesions
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참고문헌 (4)
- Wallgren-Pettersson C, "Nemaline myopathies", Semin Pediatr Neurol, 18, pp.230~238 (2011)
- Costa CF, "Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects", J Cell Sci, 117(Pt 15), pp.3367~3377 (2004)
- Wallgren-Pettersson C, "51st ENMC international workshop: nemaline myopathy. 13-15 June 1997, Naarden, the Netherlands", Neuromuscul Disord, 8, pp.53~56 (1998)
- Ryan MM, "Nemaline myopathy: a clinical study of 143 cases", Ann Neurol, 50, pp.312~320 (2001)
관련 논문AI추천
A Novel TTN Gene Variant c.95136T>G (p.Cys31712Trp) and Associated Clinical Characteristics in a Family With Suspected Hereditary Myopathy With Early Respiratory FailureKwon Hyuk Sung, Park Jong Eun, Yeo Yoomi대한진단검사의학회 · Annals of Laboratory Medicine2021 · 제41권 제6호소아형 Nemaline 근병증 1예김남희, 김성민, 김현경, 박경석, 박성호, 성정준, 이광우, 최기영, 홍윤호대한임상신경생리학회 · Annals of Clinical Neurophysiology2006 · 제8권 제1호Clinical Heterogeneity in Korean Patients with Nemaline Myopathy김세훈, 김승민, 김태승, 심동석, 최영철, 홍지만, 선우일남연세대학교의과대학 · Yonsei Medical Journal2010 · 제51권 제2호A Spinal Muscular Atrophy Family with Intrafamilial Phenotype Differences Despite the Same Copy-Number Variation in SMN2박진모, 박진성, 신진홍, Hisahide Nishio대한신경과학회 · Journal of Clinical Neurology2019 · 제15권 제3호A Korean Case of Neonatal Nemaline Myopathy Carrying KLHL40 Mutations Diagnosed Using Next Generation SequencingJang Hoon Lee, Moon Sung Park, Yoong-a Suh, Young Bae Sohn대한신생아학회 · Neonatal medicine2021 · 제28권 제2호A Case Report of Congenital Fixed Dilated Pupils Due to ACTA2 Gene Mutation: Multisystemic Smooth Muscle Dysfunction SyndromeDong Hyun Kim, Jae Ryong Song대한안과학회 · Korean Journal of Ophthalmology2024 · 제38권 제3호
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