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Malignant hyperthermia and cylindrical spirals in a 4-year-old boy

  • Masashi Ogasawara
    Affiliations
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8502, Japan

    Medical Genome Center, NCNP, Kodaira, Tokyo, Japan

    Department of Pediatrics, Showa General Hospital, Kodaira, Tokyo, Japan
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  • Shinji Saitoh
    Affiliations
    Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya 467-8601, Japan
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  • Yukako Nishimori
    Affiliations
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8502, Japan

    Medical Genome Center, NCNP, Kodaira, Tokyo, Japan
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  • Shinichiro Hayashi
    Affiliations
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8502, Japan

    Medical Genome Center, NCNP, Kodaira, Tokyo, Japan
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  • Aritoshi Iida
    Affiliations
    Medical Genome Center, NCNP, Kodaira, Tokyo, Japan
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  • Satoru Noguchi
    Affiliations
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8502, Japan

    Medical Genome Center, NCNP, Kodaira, Tokyo, Japan
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  • lchizo Nishino
    Correspondence
    Corresponding author at: Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8502, Japan.
    Affiliations
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8502, Japan

    Medical Genome Center, NCNP, Kodaira, Tokyo, Japan
    Search for articles by this author
Published:September 20, 2022DOI:https://doi.org/10.1016/j.nmd.2022.09.006

      Highlights

      • A rare case of malignant hyperthermia was observed in a 4-year-old child.
      • Muscle biopsy showed cylindrical spirals in the subsarcolemmal area.
      • Cylindrical spirals are possibly linked to altered Ca2+ metabolism.
      • First study to reveal the association between spirals and malignant hyperthermia.

      Keywords

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