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CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies.
Scalco, Renata Siciliani; Gardiner, Alice R; Pitceathly, Robert D S; Hilton-Jones, David; Schapira, Anthony H; Turner, Chris; Parton, Matt; Desikan, Mahalekshmi; Barresi, Rita; Marsh, Julie; Manzur, Adnan Y; Childs, Anne-Marie; Feng, Lucy; Murphy, Elaine; Lamont, Phillipa J; Ravenscroft, Gianina; Wallefeld, William; Davis, Mark R; Laing, Nigel G; Holton, Janice L; Fialho, Doreen; Bushby, Kate; Hanna, Michael G; Phadke, Rahul; Jungbluth, Heinz; Houlden, Henry; Quinlivan, Ros.
Afiliação
  • Scalco RS; MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; CAPES Foundation, Ministry of Education of Brazil, Brasilia DF, Brazil. Electronic address:
  • Gardiner AR; MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
  • Pitceathly RD; MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neur
  • Hilton-Jones D; Department of Clinical Neurology, West Wing, John Radcliffe Hospital, Oxford, UK.
  • Schapira AH; MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
  • Turner C; MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
  • Parton M; MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
  • Desikan M; MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
  • Barresi R; NHS England HSS for Rare Neuromuscular Diseases, Muscle Immunoanalysis Unit, Dental Hospital Richardson Road, Newcastle upon Tyne, UK; The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyn
  • Marsh J; NHS England HSS for Rare Neuromuscular Diseases, Muscle Immunoanalysis Unit, Dental Hospital Richardson Road, Newcastle upon Tyne, UK.
  • Manzur AY; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, Great Ormond Street Hospital, London, UK.
  • Childs AM; Leeds Teaching Hospitals, Leeds, UK.
  • Feng L; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, Great Ormond Street Hospital, London, UK.
  • Murphy E; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
  • Lamont PJ; Neurogenetic Unit, Dept of Neurology, Royal Perth Hospital, Australia.
  • Ravenscroft G; Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, Australia.
  • Wallefeld W; Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, Australia.
  • Davis MR; Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, Australia.
  • Laing NG; Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, Australia; Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, Australia.
  • Holton JL; MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
  • Fialho D; MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
  • Bushby K; The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Hanna MG; MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
  • Phadke R; MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, Great Ormond Street Hospital,
  • Jungbluth H; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, UK; Department of Paediatric Neurology, Evelina Children's Hospital, Guy's & St Thomas NHS Foundation Trust, London, UK; Randall Division for Cell and Molecular Biophysics,
  • Houlden H; MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
  • Quinlivan R; MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, Great Ormond Street Hospital,
Neuromuscul Disord ; 26(8): 504-10, 2016 08.
Article em En | MEDLINE | ID: mdl-27312022
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Rabdomiólise / Tolerância ao Exercício / Caveolina 3 / Mialgia Limite: Adolescent / Adult / Aged80 / Child / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Rabdomiólise / Tolerância ao Exercício / Caveolina 3 / Mialgia Limite: Adolescent / Adult / Aged80 / Child / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2016 Tipo de documento: Article