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The first Japanese case of primary familial brain calcification caused by an MYORG variant.
Kume, Kodai; Takata, Tadayuki; Morino, Hiroyuki; Matsuda, Yukiko; Ohsawa, Ryosuke; Tada, Yui; Kurashige, Takashi; Kawakami, Hideshi.
Afiliación
  • Kume K; Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8553, Japan. kume-k@med.kagawa-u.ac.jp.
  • Takata T; Department of Supportive and Promotive Medicine of the Municipal Hospital, Faculty of Medicine, Kagawa University, 1750-1 Ikenobe, Miki-cho, Kita-gun, Kagawa, 761-0793, Japan. kume-k@med.kagawa-u.ac.jp.
  • Morino H; Department of Integrated Medicine, Faculty of Medicine, Kagawa University, 1750-1 Ikenobe, Miki-cho, Kita-gun, Kagawa, 761-0793, Japan.
  • Matsuda Y; Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical and Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8553, Japan.
  • Ohsawa R; Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8553, Japan.
  • Tada Y; Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8553, Japan.
  • Kurashige T; Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8553, Japan.
  • Kawakami H; Department of Neurology, National Hospital Organization Kure Medical Center and Chugoku Cancer Center, 3-1 Aoyama-cho, Kure, 737-0023, Japan.
J Hum Genet ; 65(10): 917-920, 2020 Oct.
Article en En | MEDLINE | ID: mdl-32451491
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Texto completo: 1 Colección: 01-internacional Asunto principal: Encefalopatías / Calcinosis / Mutación Puntual / Mutación Missense / Glicósido Hidrolasas Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans País/Región como asunto: Asia Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Japón
Texto completo
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Texto completo: 1 Colección: 01-internacional Asunto principal: Encefalopatías / Calcinosis / Mutación Puntual / Mutación Missense / Glicósido Hidrolasas Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans País/Región como asunto: Asia Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Japón