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Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy
Institution:1. Department of Neurology, Peking University First Hospital, Beijing 100034, China;2. Grandomics Biosciences, Beijing 101312, China;3. Department of Neurology, Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China;4. Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang 330006, China;5. Department of Neurology, Toyama University Hospital, Toyama 930-0194, Japan;6. Department of Neurology, Federation of National Public Service Personnel Mutual Aid Associations Toranomon Hospital, Tokyo 105-8470, Japan;7. Department of Neurology, Hakodate Medical Association Hospital, Hakodate 041-8522, Japan;8. Department of Neurology, Japanese Red Cross Asahikawa Hospital, Asahikawa 070-8530, Japan;9. Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo 187-8551, Japan;10. Department of Clinical Genome Analysis, Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo 187-8551, Japan;11. Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8551, Japan;12. National Laboratory of Biomacromolecules, CAS Center for Excellence in Biomacromolecules, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China;13. Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Shandong University, Jinan 250012, China; Mitochondrial Medicine Laboratory, Qilu Hospital (Qingdao), Shandong University, Qingdao 266035, China; Brain Science Research Institute, Shandong University, Jinan 250012, China
Abstract:
Keywords:oculopharyngodistal myopathy  GGC repeat expansions  intranuclear inclusions  RNA-seq
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