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Approach to the diagnosis of congenital myopathies.
North, Kathryn N; Wang, Ching H; Clarke, Nigel; Jungbluth, Heinz; Vainzof, Mariz; Dowling, James J; Amburgey, Kimberly; Quijano-Roy, Susana; Beggs, Alan H; Sewry, Caroline; Laing, Nigel G; Bönnemann, Carsten G.
Afiliación
  • North KN; Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, Melbourne, Victoria 3052, Australia; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, University of Sydney, Sydney, Australia. Electronic address: kathryn.north@mcri.edu.a
  • Wang CH; Driscoll Children's Hospital, Corpus Christi, TX, United States.
  • Clarke N; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, University of Sydney, Sydney, Australia.
  • Jungbluth H; Evelina Children's Hospital, Department of Paediatric Neurology, London, United Kingdom; Randall Division for Cell and Molecular Biophysics, Muscle Signalling Section, King's College, London, United Kingdom; Clinical Neuroscience Division, IoP, London, United Kingdom.
  • Vainzof M; Human Genome Research Center, University of Sao Paulo, Sao Paulo, Brazil.
  • Dowling JJ; Division of Neurology, Department of Paediatrics, Hospital for Sick Children, Toronto, ON, Canada.
  • Amburgey K; Division of Neurology, Department of Paediatrics, Hospital for Sick Children, Toronto, ON, Canada.
  • Quijano-Roy S; Department of Pediatrics, Garches Neuromuscular Reference Center (GNMH), APHP Raymond Poincare University Hospital (UVSQ), Garches, France.
  • Beggs AH; Children's Hospital Boston, Boston, MA, United States.
  • Sewry C; Dubowitz Neuromuscular Centre, London, United Kingdom; Wolfson Centre of Inherited Neuromuscular Diseases, RJAH Orthopaedic Hospital, Oswestry, United Kingdom.
  • Laing NG; Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research, QQ Building, QEII Medical Centre, Nedlands, Western Australia 6009, Australia.
  • Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, Bethesda, MD, United States.
Neuromuscul Disord ; 24(2): 97-116, 2014 Feb.
Article en En | MEDLINE | ID: mdl-24456932

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Miotonía Congénita Tipo de estudio: Diagnostic_studies / Guideline / Qualitative_research Límite: Humans Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2014 Tipo del documento: Article

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Miotonía Congénita Tipo de estudio: Diagnostic_studies / Guideline / Qualitative_research Límite: Humans Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2014 Tipo del documento: Article