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Sialic Acid Replacement Therapy for Distal Myopathy with Rimmed Vacuoles Madoka Mori-Yoshimura 1 , Ichizo Nishino 2,3 1Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry 2Department of Neuromuscular Research, Institute of Neuroscience, National Center of Neurology and Psychiatry 3Department of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Psychiatry Keyword: 縁取り空胞を伴う遠位型ミオパチー , GNEミオパチー , シアル酸 , N-アセチルノイラミン酸 , N-アセチルマンノサミン , distal myopathy with rimmed vacuoles , GNE myopathy , sialic acid , N-acetylneuraminic acid , N-acetylmannosamine pp.1115-1123
Published Date 2015/9/1
DOI https://doi.org/10.11477/mf.1416200269
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Abstract

Distal myopathy with rimmed vacuoles or GNE myopathy, is an early adult-onset myopathy with slow progression that preferentially affects the tibialis anterior muscle.

Severely affected patients show marked limb muscle atrophy together with respiratory dysfunction. The disease is caused by a mutation in the GNE gene that catalyzes two rate-limiting reactions in cytosolic sialic acid synthesis. Oral treatment with sialic acid metabolite prevents muscle atrophy and weakness in a mouse GNE myopathy model and a global Phase Ⅲ study is currently underway. In addition, a global patient registry of neuromuscular cases is widely accepted as a useful tool to obtain epidemiological data and bolster patient recruitment for further development of this treatment strategy.


Copyright © 2015, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 1344-8129 印刷版ISSN 1881-6096 医学書院

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