Your browser doesn't support javascript.
loading
A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.
Mitsuhashi, Satomi; Ohkuma, Aya; Talim, Beril; Karahashi, Minako; Koumura, Tomoko; Aoyama, Chieko; Kurihara, Mana; Quinlivan, Ros; Sewry, Caroline; Mitsuhashi, Hiroaki; Goto, Kanako; Koksal, Burcu; Kale, Gulsev; Ikeda, Kazutaka; Taguchi, Ryo; Noguchi, Satoru; Hayashi, Yukiko K; Nonaka, Ikuya; Sher, Roger B; Sugimoto, Hiroyuki; Nakagawa, Yasuhito; Cox, Gregory A; Topaloglu, Haluk; Nishino, Ichizo.
Afiliación
  • Mitsuhashi S; National Institute of Neuroscience, Department of Neuromuscular Research, National Center of Neurology and Psychiatry, Tokyo 1878502, Japan.
  • Ohkuma A; National Institute of Neuroscience, Department of Neuromuscular Research, National Center of Neurology and Psychiatry, Tokyo 1878502, Japan.
  • Talim B; Department of Pediatrics, Pathology Unit, Hacettepe Children's Hospital, Ankara, 06100, Turkey.
  • Karahashi M; School of Pharmaceutical Sciences, Kitasato University, Tokyo, 1088641, Japan.
  • Koumura T; School of Pharmaceutical Sciences, Kitasato University, Tokyo, 1088641, Japan.
  • Aoyama C; Department of Biochemistry, Dokkyo Medical University School of Medicine, Mibu, 3210293, Japan.
  • Kurihara M; Department of Pediatrics, The Kanagawa Rehabilitation Center, Kanagawa, 2430121, Japan.
  • Quinlivan R; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Trust, London, WC1N 3JH, UK; MRC Centre for Neuromuscular Disorders, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
  • Sewry C; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Trust, London, WC1N 3JH, UK; RJAH Orthopaedic Hospital, Oswestry, SY107AG, UK.
  • Mitsuhashi H; National Institute of Neuroscience, Department of Neuromuscular Research, National Center of Neurology and Psychiatry, Tokyo 1878502, Japan.
  • Goto K; National Institute of Neuroscience, Department of Neuromuscular Research, National Center of Neurology and Psychiatry, Tokyo 1878502, Japan.
  • Koksal B; Department of Pediatrics, Pathology Unit, Hacettepe Children's Hospital, Ankara, 06100, Turkey.
  • Kale G; Department of Pediatrics, Pathology Unit, Hacettepe Children's Hospital, Ankara, 06100, Turkey.
  • Ikeda K; Department of Metabolome, Graduate School of Medicine, The University of Tokyo, Tokyo, 1130033, Japan.
  • Taguchi R; Department of Metabolome, Graduate School of Medicine, The University of Tokyo, Tokyo, 1130033, Japan.
  • Noguchi S; National Institute of Neuroscience, Department of Neuromuscular Research, National Center of Neurology and Psychiatry, Tokyo 1878502, Japan.
  • Hayashi YK; National Institute of Neuroscience, Department of Neuromuscular Research, National Center of Neurology and Psychiatry, Tokyo 1878502, Japan.
  • Nonaka I; National Institute of Neuroscience, Department of Neuromuscular Research, National Center of Neurology and Psychiatry, Tokyo 1878502, Japan.
  • Sher RB; The Jackson Laboratory, Bar Harbor, Maine, 04609, USA.
  • Sugimoto H; Department of Biochemistry, Dokkyo Medical University School of Medicine, Mibu, 3210293, Japan.
  • Nakagawa Y; School of Pharmaceutical Sciences, Kitasato University, Tokyo, 1088641, Japan.
  • Cox GA; The Jackson Laboratory, Bar Harbor, Maine, 04609, USA.
  • Topaloglu H; Department of Pediatrics, Child Neurology Unit, Hacettepe Children's Hospital, 06100, Ankara, Turkey.
  • Nishino I; National Institute of Neuroscience, Department of Neuromuscular Research, National Center of Neurology and Psychiatry, Tokyo 1878502, Japan. Electronic address: nishino@ncnp.go.jp.
Am J Hum Genet ; 88(6): 845-851, 2011 Jun 10.
Article en En | MEDLINE | ID: mdl-21665002
Asunto(s)
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fosfatidilcolinas / Colina Quinasa / Mitocondrias Musculares / Distrofias Musculares Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2011 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fosfatidilcolinas / Colina Quinasa / Mitocondrias Musculares / Distrofias Musculares Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2011 Tipo del documento: Article