논문KCI 등재
GNE Myopathy with Prominent Axial Muscle Involvement
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참고문헌 (8)
- Argov Z, ""Rimmed vacuole myopathy" sparing the quadriceps. A unique disorder in Iranian Jews", J Neurol Sci, 64, pp.33~43 (1984)
- Gagiannis D, "Reduced sialylation status in UDP-N-acetylglucosamine-2-epimerase", N-acetylmannosamine kinase (GNE)-deficient mice, 2007, pp.24, 125~130
- Nishino I, "GNE myopathy: current update and future therapy", J Neurol Neurosurg Psychiatry, 86, pp.385~392 (2015)
- Penner J, "Influence of UDP-GlcNAc 2-epimerase", ManNAc kinase mutant proteins on hereditary inclusion body myopathy, 2006, pp.45, 2968~2977
- Park YE, "Limb-girdle phenotype is frequent in patients with myopathy associated with GNE mutations", J Neurol Sci, 321, pp.77~81 (2012)
- Argov Z, "Hereditary inclusion body myopathy: the Middle Eastern genetic cluster", Neurology, 60, pp.1519~1523 (2003)
- Kim BJ, "Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles", J Hum Genet, 51, pp.137~140 (2006)
- de Dios JK, "Atypical presentation of GNE myopathy with asymmetric hand weakness", Neuromuscul Disord, 24, pp.1063~1067 (2014)
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