Neuromuscular Disorders
Volume 20, Issue 3 , Pages 166-173 , March 2010

Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene

  • Haiyan Zhou

      Affiliations

    • Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital for Children, London, UK
    • ,
  • Suzanne Lillis

      Affiliations

    • DNA Laboratory, GSTS Pathology, Guy’s Hospital, London, UK
    • ,
  • Ryan E. Loy

      Affiliations

    • University of Rochester Medical Center, Department of Pharmacology and Physiology, Rochester, New York, USA
    • ,
  • Farshid Ghassemi

      Affiliations

    • University of North Carolina, Department of Biochemistry and Biophysics, Chapel Hill, North Carolina, USA
    • ,
  • Michael R. Rose

      Affiliations

    • Department of Neurology, King’s College Hospital, London, UK
    • ,
  • Fiona Norwood

      Affiliations

    • Department of Neurology, King’s College Hospital, London, UK
    • ,
  • Kerry Mills

      Affiliations

    • Department of Neurophysiology, King’s College Hospital, London, UK
    • ,
  • Safa Al-Sarraj

      Affiliations

    • Department of Clinical Neuropathology, King’s College Hospital, London, UK
    • ,
  • Russell J.M. Lane

      Affiliations

    • Department of Clinical Neurosciences, Charing Cross Hospital, London, UK
    • ,
  • Lucy Feng

      Affiliations

    • Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital for Children, London, UK
    • ,
  • Emma Matthews

      Affiliations

    • MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
    • ,
  • Caroline A. Sewry

      Affiliations

    • Centre for Inherited Neuromuscular Disorders, RJAH Orthopaedic Hospital, Oswestry, UK
    • ,
  • Stephen Abbs

      Affiliations

    • DNA Laboratory, GSTS Pathology, Guy’s Hospital, London, UK
    • ,
  • Stefan Buk

      Affiliations

    • Department of Clinical Neuropathology, King’s College Hospital, London, UK
    • ,
  • Michael Hanna

      Affiliations

    • MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
    • ,
  • Susan Treves

      Affiliations

    • Departments of Anaesthesia and Research, Basel University Hospital, 4031 Basel, Switzerland
    • ,
  • Robert T. Dirksen

      Affiliations

    • University of Rochester Medical Center, Department of Pharmacology and Physiology, Rochester, New York, USA
    • ,
  • Gerhard Meissner

      Affiliations

    • University of North Carolina, Department of Biochemistry and Biophysics, Chapel Hill, North Carolina, USA
    • ,
  • Francesco Muntoni

      Affiliations

    • Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital for Children, London, UK
    • ,
  • Heinz Jungbluth

      Affiliations

    • Department of Paediatric Neurology, Evelina Children’s Hospital, St. Thomas’ Hospital, London, UK
    • Clinical Neuroscience Division, King’s College, London, UK
    • Corresponding Author InformationCorresponding author. Address: Clinical Neuroscience Division, King’s College London, and Department of Paediatric Neurology, Evelina Children’s Hospital, Guy’s & St. Thomas’ NHS Foundation Trust, Lambeth Palace Road, London SE1 7EH, UK.

Received 5 August 2009 ,Revised 6 December 2009 ,Accepted 15 December 2009.

References 

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PII: S0960-8966(09)00716-0

doi: 10.1016/j.nmd.2009.12.005

Neuromuscular Disorders
Volume 20, Issue 3 , Pages 166-173 , March 2010

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