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Journal of the Korean Neurological Association 2005;23(3): 418-421.
GNE 유전자돌연변이검사를 통해 진단된 Nonaka 근병증 1예
한영수, 김두응 김정미 조정선 한정호 조은경 기창석a 김종원a
서울보훈병원 신경과, 성균관의대 삼성서울병원 진단검사의학과a
A Case of Nonaka Myopathy Confirmed by GNE Mutation
Young-Su Han
Department of Neurology, Seoul Veterans Hospital, Seoul; Department of Laboratory Medicine, Sungkyunkwan University School of Medicine, Samsung Medical Centera, Seoul, Korea
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)