Thr1313Met Mutation in Skeletal Muscle Sodium Channels in a Japanese Family with Paramyotonia Congenita

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  • KlNOSHITA Masanobu
    The Fourth Department of Internal Medicine, Saitama Medical Center, Saitama Medical School
  • SASAKI Ryogen
    Department of Neurology, Mie University School of Medicine
  • NAGANO Tadasuke
    The Fourth Department of Internal Medicine, Saitama Medical Center, Saitama Medical School
  • MATSUDA Akihiko
    The Fourth Department of Internal Medicine, Saitama Medical Center, Saitama Medical School
  • NAKAMURA Satoko
    The Fourth Department of Internal Medicine, Saitama Medical Center, Saitama Medical School
  • TAKAHAMA Misato
    The Fourth Department of Internal Medicine, Saitama Medical Center, Saitama Medical School
  • OHNUKI Manabu
    The Fourth Department of Internal Medicine, Saitama Medical Center, Saitama Medical School
  • HASEGAWA Hajime
    The Fourth Department of Internal Medicine, Saitama Medical Center, Saitama Medical School
  • MITARAI Tetsuya
    The Fourth Department of Internal Medicine, Saitama Medical Center, Saitama Medical School
  • HIROSE Kazuhiko
    Ueno Hospital Internal Medicine

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A 37-year-old Japanese woman was referred from another clinic to confirm the diagnosis of myotonia congenita. She had experienced cold-induced myotonia and muscle stiffness from early childhood. Of her three children, her elder son and her daughter have clinical features similar to hers. They experience neither grip nor percussion myotonia during warm weather, whereas myotonia is provoked by cold. Her younger son has no symptoms. DNA analyses of the SCN4A gene showed a C to T transition at nucleotide position 3938 in exon 22 of SCN4A (Thr1313Met) in all three affected family members, but not in the unaffected son. Paramyotonia congenita, the prevalence of which is very low in Japan, was diagnosed based on their clinical features and DNA analysis results.<br>(Internal Medicine 42: 856-861, 2003)

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  • Internal Medicine

    Internal Medicine 42 (9), 856-861, 2003

    一般社団法人 日本内科学会

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