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Three novel recessive DYSF mutations identified in three patients with muscular dystrophy, limb-girdle, type 2B.
Okubo, Mariko; Iida, Aritoshi; Hayashi, Shinichiro; Mori-Yoshimura, Madoka; Oya, Yasushi; Watanabe, Akihiro; Arahata, Hajime; El Sherif, Rasha; Noguchi, Satoru; Nishino, Ichizo.
Afiliação
  • Okubo M; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan; Department of Pediatrics, Graduate School of Medicine and Faculty of Medicine, The University Tokyo, Tokyo, Japan.
  • Iida A; Department of Clinical Genome Analysis, Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Hayashi S; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Mori-Yoshimura M; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Oya Y; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Watanabe A; Department of Neurology, National Hospital Organization Omuta Hospital, Fukuoka, Japan.
  • Arahata H; Department of Neurology, National Hospital Organization Omuta Hospital, Fukuoka, Japan.
  • El Sherif R; Neuromuscular Unit, Egypt Air Hospital, Cairo, Egypt.
  • Noguchi S; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan; Department of Clinical Genome Analysis, Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan. Electronic address: nishino@ncnp.go.jp.
J Neurol Sci ; 395: 169-171, 2018 12 15.
Article em En | MEDLINE | ID: mdl-30366248
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofia Muscular do Cíngulo dos Membros / Disferlina / Mutação Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male / Middle aged Idioma: En Revista: J Neurol Sci Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Japão
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofia Muscular do Cíngulo dos Membros / Disferlina / Mutação Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male / Middle aged Idioma: En Revista: J Neurol Sci Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Japão