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An adult nemaline myopathy patient with respiratory and heart failure harboring a novel NEB variant.
Ohara, Masahiro; Saito, Yoshihiko; Watanabe, Mutsufusa; Mizutani, Saneyuki; Kobayashi, Masaki; Iida, Aritoshi; Nishino, Ichizo; Fujigasaki, Hiroto.
Afiliação
  • Ohara M; Department of Internal Medicine, Tokyo, Metropolitan Bokutoh Hospital, Japan.
  • Saito Y; Department of Neurology and Neurological Science, Graduate School of Medical and Dental Science, Tokyo Medical and Dental University, 1-5-45, Yushima, Bunkyo-ku, Tokyo 113-8519, Japan.
  • Watanabe M; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8502, Japan.
  • Mizutani S; Department of Internal Medicine, Tokyo, Metropolitan Bokutoh Hospital, Japan.
  • Kobayashi M; Department of Internal Medicine, Tokyo, Metropolitan Bokutoh Hospital, Japan.
  • Iida A; Department of Neurology, Nissan Tamagawa Hospital, 4-8-1 Seta, Setagaya-ku, Tokyo 158-0095, Japan.
  • Nishino I; Medical Genome Center, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan.
  • Fujigasaki H; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8502, Japan.
eNeurologicalSci ; 21: 100268, 2020 Dec.
Article em En | MEDLINE | ID: mdl-32939402
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: ENeurologicalSci Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Japão País de publicação: Holanda
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: ENeurologicalSci Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Japão País de publicação: Holanda