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- Miyashita Koichi
- Department of Neurology, Mie University Graduate School of Medicine, Japan
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- Ii Yuichiro
- Department of Neurology, Mie University Graduate School of Medicine, Japan
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- Matsuyama Hirofumi
- Department of Neurology, Mie University Graduate School of Medicine, Japan
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- Niwa Atsushi
- Department of Neurology, National Mie Hospital, Japan
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- Kawana Yosuke
- Department of Neurology, Saiseikai Matsusaka General Hospital, Japan
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- Shibata Soshi
- Department of Neurology, Suzuka Chuo General Hospital, Japan
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- Minami Narihiro
- Department of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Psychiatry, Japan Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Japan
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- Nishino Ichizo
- Department of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Psychiatry, Japan Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Japan
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- Tomimoto Hidekazu
- Department of Neurology, Mie University Graduate School of Medicine, Japan
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説明
<p>We herein report a Japanese patient with myotonic dystrophy type 2 (DM2), which is rare in Japan. A 64-year-oldman had proximal muscle weakness and grip myotonia. Electromyography showed myotonic discharges, but dystrophia-myotonica protein kinase (DMPK) was negative for CTG repeats. A muscle biopsy revealed increased central nuclei, pyknotic nuclear clumps and muscle fiber atrophy, mainly in type 2 fibers, raising the possibility of DM2. The diagnosis was genetically confirmed by the abnormal CCTG repeat size in cellular nucleic acid-binding protein (CNBP) on repeat-primed polymerase chain reaction, which was estimated to be around 4,500 repeats by Southern blotting. </p>
収録刊行物
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- Internal Medicine
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Internal Medicine 62 (20), 3027-3031, 2023-10-15
一般社団法人 日本内科学会