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- W2892365116 abstract "GNE myopathy caused by the UDP-N-acetyl-glucosamine 2-epimerase/N-acetylmannosamine (GNE) gene is characterized by muscle weakness and atrophy of lower muscles with sparing the quadriceps. We describe a 32-year-old woman who suffered GNE myopathy, with symptoms presenting in distant muscles of lower limbs and spreading to her legs. The patient's serum level of creatine kinase was mildly increased. Mild myogenic changes in tibialis muscles in muscle electromyographic and moderate fatty infiltration in magnetic resonance imaging were detected. Histopathological examination revealed variation in muscle fiber size, rimmed vacuoles and disorganized intermyofibrillar networks. DNA sequencing analysis detected novel compound heterozygous mutations c.620A>T (exon 4) and exon 1 deletion. We reported a GNE myopathy patient with novel compound heterozygous GNE gene mutations and expanded the genotypic spectrum of GNE myopathy." @default.
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- W2892365116 date "2018-10-01" @default.
- W2892365116 modified "2023-09-28" @default.
- W2892365116 title "MYOFIBRILLAR AND DISTAL MYOPATHIES" @default.
- W2892365116 doi "https://doi.org/10.1016/j.nmd.2018.06.296" @default.
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