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Recessive MYH7-related myopathy in two families.
Beecroft, Sarah J; van de Locht, Martijn; de Winter, Josine M; Ottenheijm, Coen A; Sewry, Caroline A; Mohammed, Shehla; Ryan, Monique M; Woodcock, Ian R; Sanders, Lauren; Gooding, Rebecca; Davis, Mark R; Oates, Emily C; Laing, Nigel G; Ravenscroft, Gianina; McLean, Catriona A; Jungbluth, Heinz.
  • Beecroft SJ; Centre for Medical Research University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia 6009, Australia. Electronic address: sarah.beecroft@uwa.edu.au.
  • van de Locht M; Physiology, VU University Medical Center, Netherlands.
  • de Winter JM; Physiology, VU University Medical Center, Netherlands.
  • Ottenheijm CA; Physiology, VU University Medical Center, Netherlands.
  • Sewry CA; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
  • Mohammed S; Department of Clinical Genetics, Guy's and St Thomas' Hospital, London SE1 7EH, UK.
  • Ryan MM; Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Australia; Department of Neurology, The Royal Children's Hospital, Melbourne, Australia.
  • Woodcock IR; Department of Neurology, The Royal Children's Hospital, Melbourne, Australia.
  • Sanders L; Department of Medicine, Southern Clinical School, Monash University, Melbourne, Australia.
  • Gooding R; Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Australia.
  • Davis MR; Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Australia.
  • Oates EC; School of Biotechnology & Biomolecular Sciences, The University of New South Wales, Sydney, Australia.
  • Laing NG; Centre for Medical Research University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia 6009, Australia; Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Australia.
  • Ravenscroft G; Centre for Medical Research University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia 6009, Australia.
  • McLean CA; Department of Anatomical Pathology, Alfred Hospital, Melbourne, Australia; Faculty of Medicine Nursing and Health Sciences, Monash University, Melbourne, Australia.
  • Jungbluth H; Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's&St Thomas' Hospital NHS Foundation Trust, London, UK; Randall Division of Cell and Molecular Biophysics, Muscle Signaling Section, King's College, London, UK; Department of Clinical and Basic Neuroscien
Neuromuscul Disord ; 29(6): 456-467, 2019 06.
Article en En | MEDLINE | ID: mdl-31130376
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Cadenas Pesadas de Miosina / Miosinas Cardíacas / Enfermedades Musculares / Mutación Límite: Adolescent / Adult / Animals / Female / Humans / Male Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Cadenas Pesadas de Miosina / Miosinas Cardíacas / Enfermedades Musculares / Mutación Límite: Adolescent / Adult / Animals / Female / Humans / Male Idioma: En Año: 2019 Tipo del documento: Article