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- W2005251570 abstract "Mutations in the glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene cause GNE myopathy, a mildly progressive autosomal recessive myopathy. We performed a prospective natural history study in 24 patients with GNE myopathy to select evaluation tools for use in upcoming clinical trials. Patient clinical conditions were evaluated at study entry and one-year follow-up. Of the 24 patients, eight (33.3%) completed a standard 6-min walk test without assistance. No cardiac events were observed. Summed manual muscle testing of 17 muscles, grip power, and percent force vital capacity (%FVC) were significantly reduced (p < 0.05), and scores for 6-min walk test and gross motor function measure were decreased (p < 0.1) after one year. The decrement in %FVC was significant among non-ambulant patients, whereas the decrement in grip power tended to be greater among ambulant patients. The 6-min walk test, gross motor function measure, manual muscle testing, grip power, and %FVC reflect annual changes and are thus considered good evaluation tools for clinical trials." @default.
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- W2005251570 date "2014-05-01" @default.
- W2005251570 modified "2023-10-18" @default.
- W2005251570 title "GNE myopathy: A prospective natural history study of disease progression" @default.
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- W2005251570 doi "https://doi.org/10.1016/j.nmd.2014.02.008" @default.
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