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Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.
Yuen, Michaela; Cooper, Sandra T; Marston, Steve B; Nowak, Kristen J; McNamara, Elyshia; Mokbel, Nancy; Ilkovski, Biljana; Ravenscroft, Gianina; Rendu, John; de Winter, Josine M; Klinge, Lars; Beggs, Alan H; North, Kathryn N; Ottenheijm, Coen A C; Clarke, Nigel F.
Afiliação
  • Yuen M; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Westmead, Australia, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia, michaela.kreissl@sydney.edu.au.
  • Cooper ST; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Westmead, Australia, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia.
  • Marston SB; National Heart and Lung Institute, Imperial College London, London, UK.
  • Nowak KJ; Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, Australia.
  • McNamara E; Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, Australia.
  • Mokbel N; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Westmead, Australia, Faculty of Health Sciences, St. George Health Complex, The University of Balamand, Beirut, Lebanon.
  • Ilkovski B; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Westmead, Australia.
  • Ravenscroft G; Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, Australia.
  • Rendu J; Département de Biochimie Toxicologie et Pharmacologie, Département de Biochimie Génétique et Moléculaire, Centre Hospitalier Universitaire de Grenoble, Grenoble, France.
  • de Winter JM; Department of Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam, The Netherlands.
  • Klinge L; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, Faculty of Medicine, Georg August University, Göttingen, Germany.
  • Beggs AH; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • North KN; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Westmead, Australia, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia, Murdoch Children's Research Institute, the Royal Children's Hospital, Parkville, Australia and Department of
  • Ottenheijm CA; Department of Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam, The Netherlands.
  • Clarke NF; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Westmead, Australia, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia.
Hum Mol Genet ; 24(22): 6278-92, 2015 Nov 15.
Article em En | MEDLINE | ID: mdl-26307083
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tropomiosina / Atrofia Muscular / Miosinas / Fibras Musculares de Contração Lenta / Doenças Musculares Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tropomiosina / Atrofia Muscular / Miosinas / Fibras Musculares de Contração Lenta / Doenças Musculares Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article