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SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
Agrawal, Pankaj B; Pierson, Christopher R; Joshi, Mugdha; Liu, Xiaoli; Ravenscroft, Gianina; Moghadaszadeh, Behzad; Talabere, Tiffany; Viola, Marissa; Swanson, Lindsay C; Haliloglu, Göknur; Talim, Beril; Yau, Kyle S; Allcock, Richard J N; Laing, Nigel G; Perrella, Mark A; Beggs, Alan H.
Afiliación
  • Agrawal PB; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital and Harva
  • Pierson CR; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital and the Ohio State University College of Medicine, Columbus, OH 43205, USA.
  • Joshi M; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Liu X; Department of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston MA 02115, USA.
  • Ravenscroft G; Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.
  • Moghadaszadeh B; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Talabere T; Research Institute, Nationwide Children's Hospital and the Ohio State University College of Medicine, Columbus, OH 43205, USA.
  • Viola M; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Swanson LC; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Haliloglu G; Neurology Unit, Department of Pediatrics, Hacettepe University Children's Hospital, Ankara 06100, Turkey.
  • Talim B; Pathology Unit, Department of Pediatrics, Hacettepe University Children's Hospital, Ankara 06100, Turkey.
  • Yau KS; Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.
  • Allcock RJ; Lotterywest State Biomedical Facility Genomics and School of Pathology and Laboratory Medicine, University of Western Australia, Perth, WA 6009, Australia.
  • Laing NG; Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.
  • Perrella MA; Department of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston MA 02115, USA; Department of Newborn Medicine, Brigham and Women's Hospital, Boston MA 02115, USA.
  • Beggs AH; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA. Electronic address: beggs@enders.tch.harvard.edu.
Am J Hum Genet ; 95(2): 218-26, 2014 Aug 07.
Article en En | MEDLINE | ID: mdl-25087613
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Cardiomiopatía Dilatada / Proteínas Serina-Treonina Quinasas / Miopatías Estructurales Congénitas / Proteínas Tirosina Fosfatasas no Receptoras / Proteínas Musculares Tipo de estudio: Etiology_studies Límite: Animals / Child / Child, preschool / Female / Humans / Male / Newborn País/Región como asunto: Asia Idioma: En Revista: Am J Hum Genet Año: 2014 Tipo del documento: Article
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Cardiomiopatía Dilatada / Proteínas Serina-Treonina Quinasas / Miopatías Estructurales Congénitas / Proteínas Tirosina Fosfatasas no Receptoras / Proteínas Musculares Tipo de estudio: Etiology_studies Límite: Animals / Child / Child, preschool / Female / Humans / Male / Newborn País/Región como asunto: Asia Idioma: En Revista: Am J Hum Genet Año: 2014 Tipo del documento: Article