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vol. 9 no. 435 ra68
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- Received December 2, 2015
- Accepted June 9, 2016
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Copyright © 2016, American Association for the Advancement of Science
Research ArticlePhysiology
An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities
- Rubén J. Lopez1,
- Susan Byrne2,
- Mirko Vukcevic1,3,
- Marijana Sekulic-Jablanovic1,
- Lifen Xu3,
- Marijke Brink3,
- Jay Alamelu4,
- Nicol Voermans5,
- Marc Snoeck6,
- Emma Clement7,
- Francesco Muntoni8,
- Haiyan Zhou8,
- Aleksandar Radunovic9,
- Shehla Mohammed7,
- Elizabeth Wraige2,
- Francesco Zorzato1,10,*,
- Susan Treves1,10,*,†, and
- Heinz Jungbluth2,11,12,*
- 1Departments of Biomedicine and Anesthesia, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland.
- 2Department of Paediatric Neurology, Neuromuscular Service, Evelina Children’s Hospital, St Thomas’ Hospital, London SE1 7EH, UK.
- 3Department of Biomedicine, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland.
- 4Department of Haematology, Evelina Children’s Hospital, St Thomas’ Hospital, London SE1 7EH, UK.
- 5Department of Neurology, Radboud University Medical Centre, Nijmegen, Netherlands.
- 6National MH Investigation Unit, Department of Anesthesiology, Canisius Wilhelmina Hospital, 6532 Nijmegen, Netherlands.
- 7Department of Clinical Genetics, Guy’s Hospital, London SE1 7EH, UK.
- 8Dubowitz Neuromuscular Centre, Institute of Child Health, University College London, London WC1N 1EH, UK.
- 9Department of Neurology, The Royal London Hospital, London E1 1BB, UK.
- 10Department of Life Sciences, General Pathology Section, University of Ferrara, Via Borsari 46, 44100 Ferrara, Italy.
- 11Randall Division of Cell and Molecular Biophysics, Muscle Signalling Section, King’s College, London SE1 1UL, UK.
- 12Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, King’s College London, London SE5 9RX, UK.
- ↵†Corresponding author. Email: susan.treves{at}unibas.ch
↵* These authors contributed equally to this work.
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Science Signaling 05 Jul 2016:
Vol. 9, Issue 435, pp. ra68
DOI: 10.1126/scisignal.aad9813
Vol. 9, Issue 435, pp. ra68
DOI: 10.1126/scisignal.aad9813
Rubén J. Lopez
1Departments of Biomedicine and Anesthesia, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland.
Susan Byrne
2Department of Paediatric Neurology, Neuromuscular Service, Evelina Children’s Hospital, St Thomas’ Hospital, London SE1 7EH, UK.
Mirko Vukcevic
1Departments of Biomedicine and Anesthesia, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland.
3Department of Biomedicine, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland.
Marijana Sekulic-Jablanovic
1Departments of Biomedicine and Anesthesia, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland.
Lifen Xu
3Department of Biomedicine, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland.
Marijke Brink
3Department of Biomedicine, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland.
Jay Alamelu
4Department of Haematology, Evelina Children’s Hospital, St Thomas’ Hospital, London SE1 7EH, UK.
Nicol Voermans
5Department of Neurology, Radboud University Medical Centre, Nijmegen, Netherlands.
Marc Snoeck
6National MH Investigation Unit, Department of Anesthesiology, Canisius Wilhelmina Hospital, 6532 Nijmegen, Netherlands.
Emma Clement
7Department of Clinical Genetics, Guy’s Hospital, London SE1 7EH, UK.
Francesco Muntoni
8Dubowitz Neuromuscular Centre, Institute of Child Health, University College London, London WC1N 1EH, UK.
Haiyan Zhou
8Dubowitz Neuromuscular Centre, Institute of Child Health, University College London, London WC1N 1EH, UK.
Aleksandar Radunovic
9Department of Neurology, The Royal London Hospital, London E1 1BB, UK.
Shehla Mohammed
7Department of Clinical Genetics, Guy’s Hospital, London SE1 7EH, UK.
Elizabeth Wraige
2Department of Paediatric Neurology, Neuromuscular Service, Evelina Children’s Hospital, St Thomas’ Hospital, London SE1 7EH, UK.
Francesco Zorzato
1Departments of Biomedicine and Anesthesia, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland.
10Department of Life Sciences, General Pathology Section, University of Ferrara, Via Borsari 46, 44100 Ferrara, Italy.
Susan Treves
1Departments of Biomedicine and Anesthesia, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland.
10Department of Life Sciences, General Pathology Section, University of Ferrara, Via Borsari 46, 44100 Ferrara, Italy.
Heinz Jungbluth
2Department of Paediatric Neurology, Neuromuscular Service, Evelina Children’s Hospital, St Thomas’ Hospital, London SE1 7EH, UK.
11Randall Division of Cell and Molecular Biophysics, Muscle Signalling Section, King’s College, London SE1 1UL, UK.
12Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, King’s College London, London SE5 9RX, UK.
