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FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients.
Awano, Hiroyuki; Saito, Yoshihiko; Shimizu, Mamiko; Sekiguchi, Kenji; Niijima, Shinichi; Matsuo, Masafumi; Maegaki, Yoshihiro; Izumi, Isho; Kikuchi, Chiya; Ishibashi, Masato; Okazaki, Tetsuya; Komaki, Hirofumi; Iijima, Kazumoto; Nishino, Ichizo.
Affiliation
  • Awano H; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo, Kobe, Hyogo 650-0017, Japan. Electronic address: awahiro@med.kobe-u.ac.jp.
  • Saito Y; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawa-Higashi-cho, Kodaira, Tokyo 187-8502, Japan.
  • Shimizu M; Shimizu Children's Clinic, 3-152 Komaki, Komaki, Aichi 485-0041, Japan.
  • Sekiguchi K; Division of Neurology, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo, Kobe, Hyogo 650-0017, Japan.
  • Niijima S; Department of Pediatrics, Juntendo University, Nerima Hospital, 3-1-10 Takanodai, Nerima, Tokyo 177-8521, Japan.
  • Matsuo M; Research Center for Locomotion Biology, Kobe Gakuin Univesity, 518 Arise, Ikawadani-cho, Nishi, Kobe, Hyogo 651-2180, Japan.
  • Maegaki Y; Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, 86 Nishi-cho, Yonago, Tottori 683-8504, Japan.
  • Izumi I; Ibaraki Children's Hospital, 3-3-1 Futabadai, Mito, Ibaraki 311-4145, Japan.
  • Kikuchi C; Department of Pediatrics, National Hospital Organization Ehime Medical Center, 366 Yokogawara, Toon, Ehime 791-0281, Japan.
  • Ishibashi M; Department of Neurology, Faculty of Medicine, Oita University, 1-1 Hasamamachi-idaigaoka, Yufu, Oita 879-5593, Japan.
  • Okazaki T; Department of Clinical Genetics, Tottori University Hospital, 36-1 Nishi-cho, Yonago, Tottori 683-8504, Japan.
  • Komaki H; Translational Medical Center, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawa-Higashi-cho, Kodaira, Tokyo 187-8502, Japan.
  • Iijima K; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo, Kobe, Hyogo 650-0017, Japan.
  • Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawa-Higashi-cho, Kodaira, Tokyo 187-8502, Japan.
J Clin Neurosci ; 92: 215-221, 2021 Oct.
Article de En | MEDLINE | ID: mdl-34509255

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Dystrophies musculaires des ceintures / Dystrophies musculaires Type d'étude: Prognostic_studies Limites: Humans Langue: En Journal: J Clin Neurosci Sujet du journal: NEUROLOGIA Année: 2021 Type de document: Article

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Dystrophies musculaires des ceintures / Dystrophies musculaires Type d'étude: Prognostic_studies Limites: Humans Langue: En Journal: J Clin Neurosci Sujet du journal: NEUROLOGIA Année: 2021 Type de document: Article