Your browser doesn't support javascript.
loading
A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy.
Inoue-Shibui, Aya; Niihori, Tetsuya; Kobayashi, Michio; Suzuki, Naoki; Izumi, Rumiko; Warita, Hitoshi; Hara, Kenju; Shirota, Matsuyuki; Funayama, Ryo; Nakayama, Keiko; Nishino, Ichizo; Aoki, Masashi; Aoki, Yoko.
Afiliação
  • Inoue-Shibui A; Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Niihori T; Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Kobayashi M; Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Suzuki N; Department of Neurology, National Hospital Organization Akita National Hospital, Yurihonjo, Japan.
  • Izumi R; Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Warita H; Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Hara K; Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Shirota M; Department of Neurology, Japanese Red Cross Akita Hospital, Akita, Japan.
  • Funayama R; Division of Interdisciplinary Medical Sciences, United Center for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Nakayama K; Division of Cell Proliferation, United Center for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Nishino I; Division of Cell Proliferation, United Center for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Aoki M; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
  • Aoki Y; Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan. aokim@med.tohoku.ac.jp.
J Hum Genet ; 66(10): 965-972, 2021 Oct.
Article em En | MEDLINE | ID: mdl-33744911
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Muscular / Chaperonas Moleculares / Predisposição Genética para Doença / Miopatias Distais / Proteínas de Choque Térmico Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: J Hum Genet Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Muscular / Chaperonas Moleculares / Predisposição Genética para Doença / Miopatias Distais / Proteínas de Choque Térmico Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: J Hum Genet Ano de publicação: 2021 Tipo de documento: Article