An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities

Rubén J. Lopez; Susan Byrne; Mirko Vukcevic; Marijana Sekulic-Jablanovic; Lifen Xu; Marijke Brink; Jay Alamelu; Nicol Voermans; Marc Snoeck; Emma Clement; Francesco Muntoni; Haiyan Zhou; Aleksandar Radunovic; Shehla Mohammed; Elizabeth Wraige; Francesco Zorzato; Susan Treves; Heinz Jungbluth

doi:10.1126/scisignal.aad9813

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

Rubén J. Lopez

1Departments of Biomedicine and Anesthesia, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland.

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Susan Byrne

2Department of Paediatric Neurology, Neuromuscular Service, Evelina Children’s Hospital, St Thomas’ Hospital, London SE1 7EH, UK.

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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.

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Marijana Sekulic-Jablanovic

1Departments of Biomedicine and Anesthesia, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland.

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Lifen Xu

3Department of Biomedicine, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland.

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Marijke Brink

3Department of Biomedicine, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland.

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Jay Alamelu

4Department of Haematology, Evelina Children’s Hospital, St Thomas’ Hospital, London SE1 7EH, UK.

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Nicol Voermans

5Department of Neurology, Radboud University Medical Centre, Nijmegen, Netherlands.

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Marc Snoeck

6National MH Investigation Unit, Department of Anesthesiology, Canisius Wilhelmina Hospital, 6532 Nijmegen, Netherlands.

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Emma Clement

7Department of Clinical Genetics, Guy’s Hospital, London SE1 7EH, UK.

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Francesco Muntoni

8Dubowitz Neuromuscular Centre, Institute of Child Health, University College London, London WC1N 1EH, UK.

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Haiyan Zhou

8Dubowitz Neuromuscular Centre, Institute of Child Health, University College London, London WC1N 1EH, UK.

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Aleksandar Radunovic

9Department of Neurology, The Royal London Hospital, London E1 1BB, UK.

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Shehla Mohammed

7Department of Clinical Genetics, Guy’s Hospital, London SE1 7EH, UK.

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Elizabeth Wraige

2Department of Paediatric Neurology, Neuromuscular Service, Evelina Children’s Hospital, St Thomas’ Hospital, London SE1 7EH, UK.

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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.

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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.

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For correspondence: susan.treves@unibas.ch

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.

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An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities

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