• Internal medicine · Oct 2023

    Case Reports

    Sporadic Myotonic Dystrophy Type 2 in a Japanese Patient: A Case Report.

    • Koichi Miyashita, Yuichiro Ii, Hirofumi Matsuyama, Atsushi Niwa, Yosuke Kawana, Soshi Shibata, Narihiro Minami, Ichizo Nishino, and Hidekazu Tomimoto.
    • Department of Neurology, Mie University Graduate School of Medicine, Japan.
    • Intern. Med. 2023 Oct 15; 62 (20): 302730313027-3031.

    AbstractWe 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.

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