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J Korean Neurol Assoc. 2005;23(3):418-421.
- A Case of Nonaka Myopathy Confirmed by GNE Mutation
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Young-Su Han
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Department of Neurology, Seoul Veterans Hospital, Seoul;
Department of Laboratory Medicine, Sungkyunkwan University School of Medicine, Samsung Medical Centera, Seoul, Korea
- GNE 유전자돌연변이검사를 통해 진단된 Nonaka 근병증 1예
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한영수, 김두응 김정미 조정선 한정호 조은경 기창석a 김종원a
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서울보훈병원 신경과, 성균관의대 삼성서울병원 진단검사의학과a
- Abstract
- Nonaka myopathy (NM) or distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessively inherited neuromuscular disorder characterized by early adult-onset weakness of distal muscles, rimmed vacuoles in muscle biopsy, and mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. The authors describe a patient with typical clinical features of NM confirmed by GNE mutation. Mutation analysis of the GNE gene revealed that the patient was a compound heterozygous for V572L and C13S mutations. KeyWords:Nonaka myopathy, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE)
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- 초록
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