RYR1-related myopathies: a wide spectrum of phenotypes throughout life.

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Abstract

Although several recent studies have implicated RYR1 mutations as a common cause of various myopathies and the malignant hyperthermia susceptibility (MHS) trait, many of these studies have been limited to certain age groups, confined geographical regions or specific conditions. The aim of the present study was to investigate the full spectrum of RYR1-related disorders throughout life and to use this knowledge to increase vigilance concerning malignant hyperthermia.

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Journal

Journal ID (iso-abbrev): Eur. J. Neurol.

Title: European journal of neurology

Publisher: Wiley-Blackwell

ISSN (Electronic): 1468-1331

ISSN (Print): 1351-5101

Publication date (Electronic): Jul 2015

Volume: 22

Issue: 7

Affiliations

[1 ] National MH Investigation Unit, Department of Anesthesiology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.

[2 ] Department of Neurology, Radboud University Medical Centre, Nijmegen, The Netherlands.

[3 ] Department of Pathology, Radboud University Medical Centre, Nijmegen, The Netherlands.

[4 ] Department of Pathology, Maastricht University Medical Centre, Maastricht, The Netherlands.

[5 ] Department of Pathology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.

[6 ] Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.

[7 ] Department of Neurology, Academic Medical Centre, Amsterdam, The Netherlands.

[8 ] Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

[9 ] Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands.

[10 ] Department of Neuropediatrics, Juliana Children's Hospital/Haga Hospital, The Hague, Nijmegen, The Netherlands.

[11 ] Department of Neurology, Erasmus Medical Centre, Rotterdam, The Netherlands.

[12 ] Department of Neurology and Neurosurgery, Brain Center Rudolf Magnus, University Medical Centre Utrecht, Utrecht, The Netherlands.

[13 ] Departments of Anesthesia and Biomedicine, University Hospital Basel, Basel, Switzerland.

[14 ] Department of Paediatric Neurology, Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust, London, UK.

[15 ] Randall Division for Cell and Molecular Biophysics, Muscle Signalling Section, King's College, London, UK.

[16 ] Department of Basic and Clinical Neuroscience, IoPPN, King's College, London, UK.

Article

DOI: 10.1111/ene.12713

PubMed ID: 25960145

SO-VID: 005d104b-a8c2-4f6c-ad7f-9e54a070f53d

History

Keywords: RYR1,anaesthesia,congenital myopathy,core myopathy,malignant hyperthermia susceptibility,ryanodine receptor

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Keywords: RYR1, anaesthesia, congenital myopathy, core myopathy, malignant hyperthermia susceptibility, ryanodine receptor

RYR1-related myopathies: a wide spectrum of phenotypes throughout life.

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