Hereditary myopathy with early respiratory failure: occurrence in various populations

Johanna Palmio; Anni Evilä; Françoise Chapon; Giorgio Tasca; Fengqing Xiang; Björn Brådvik; Bruno Eymard; Andoni Echaniz-Laguna; Jocelyn Laporte; Mikko Kärppä; Ibrahim Mahjneh; Rosaline Quinlivan; Pascal Laforêt; Maxwell Damian; Andres Berardo; Ana Lia Taratuto; Jose Antonio Bueri; Johanna Tommiska; Taneli Raivio; Matthias Tuerk; Philipp Gölitz; Frederic Chevessier; Caroline Sewry; Fiona Norwood; Carola Hedberg; Rolf Schröder; Lars Edström; Anders Oldfors; Peter Hackman; Bjarne Udd

doi:10.1136/jnnp-2013-304965

Article info

Neuromuscular

Research paper

Hereditary myopathy with early respiratory failure: occurrence in various populations

Authors

Johanna Palmio Department of Neurology, Neuromuscular Research Unit, Tampere University and University Hospital, Tampere, Finland PubMed articles Google scholar articles
Anni Evilä Department of Medical Genetics, Folkhälsan Institute of Genetics and Haartman Institute, University of Helsinki, Helsinki, Finland PubMed articles Google scholar articles
Françoise Chapon CHU de Caen, Neuromuscular Disorders Competence Centre, and University Hospital of Caen, Caen, France PubMed articles Google scholar articles
Giorgio Tasca Don Carlo Gnocchi Onlus Foundation, Milan, Italy PubMed articles Google scholar articles
Fengqing Xiang Department of Womeńs and Childreńs Health, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden PubMed articles Google scholar articles
Björn Brådvik Department of Neurology, Institution of Clinical Sciences, Lund University, Lund, Sweden PubMed articles Google scholar articles
Bruno Eymard Institute of Myology, National Reference Center for neuromuscular disorders, University Hospital of Salpêtrière, UPMC, Paris, France PubMed articles Google scholar articles
Andoni Echaniz-Laguna Department of Neurology, Hôpitaux Universitaires, Strasbourg, France PubMed articles Google scholar articles
Jocelyn Laporte Department of Translational Medecine and Neurogenetics, IGBMC, University Strasbourg, Illkirch, France PubMed articles Google scholar articles
Mikko Kärppä Department of Clinical Medicine, Neurology, University of Oulu and Clinical Research Center, Oulu University Hospital, Oulu, Finland PubMed articles Google scholar articles
Ibrahim Mahjneh Department of Neurology, University of Oulu and Pietarsaari Hospital, Oulu, Finland PubMed articles Google scholar articles
Rosaline Quinlivan MRC Centre for Neuromuscular Disease, Institute of Neurology, National Hospital, London, UK PubMed articles Google scholar articles
Pascal Laforêt Institute of Myology, National Reference Center for neuromuscular disorders, University Hospital of Salpêtrière, UPMC, Paris, France PubMed articles Google scholar articles
Maxwell Damian Cambridge University Hospitals, Cambridge, UK PubMed articles Google scholar articles
Andres Berardo Neuromuscular Section, Hospital Universitario Austral (HUA), Buenos Aires, Argentina PubMed articles Google scholar articles
Ana Lia Taratuto Department of Neuropathology, Institute for Neurological Diseases, FLENI, Buenos Aires, Argentina PubMed articles Google scholar articles
Jose Antonio Bueri Neuromuscular Section, Hospital Universitario Austral (HUA), Buenos Aires, Argentina PubMed articles Google scholar articles
Johanna Tommiska Institute of Biomedicine/Physiology, University of Helsinki, Helsinki, Finland PubMed articles Google scholar articles
Taneli Raivio Institute of Biomedicine/Physiology, University of Helsinki, Helsinki, Finland PubMed articles Google scholar articles
Matthias Tuerk Department of Neurology, University of Erlangen-Nuremberg, Erlangen, Germany PubMed articles Google scholar articles
Philipp Gölitz Department of Neuroradiology, University of Erlangen-Nuremberg, Erlangen, Germany PubMed articles Google scholar articles
Frederic Chevessier Departments of Neuropathology, University of Erlangen-Nuremberg, Erlangen, Germany PubMed articles Google scholar articles
Caroline Sewry Wolfson Centre for Inherited Neuromuscular Diseases, RJAH Orthopaedic Hospital, Oswestry, UK PubMed articles Google scholar articles
Fiona Norwood Department of Neurology, King's College Hospital NHS Foundation Trust, London, UK PubMed articles Google scholar articles
Carola Hedberg Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden PubMed articles Google scholar articles
Rolf Schröder Departments of Neuropathology, University of Erlangen-Nuremberg, Erlangen, Germany PubMed articles Google scholar articles
Lars Edström Department of Clinical Neuroscience, Karolinska Institute, Stockholm, Sweden PubMed articles Google scholar articles
Anders Oldfors Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden PubMed articles Google scholar articles
Peter Hackman Department of Medical Genetics, Folkhälsan Institute of Genetics and Haartman Institute, University of Helsinki, Helsinki, Finland PubMed articles Google scholar articles
Bjarne Udd Department of Neurology, Neuromuscular Research Unit, Tampere University and University Hospital, Tampere, Finland Department of Medical Genetics, Folkhälsan Institute of Genetics and Haartman Institute, University of Helsinki, Helsinki, Finland Department of Neurology, Vaasa Central Hospital, Vaasa, Finland PubMed articles Google scholar articles

Correspondence to Dr Johanna Palmio, Department of Neurology, Neuromuscular Research Unit, Tampere University Hospital and University of Tampere, Tampere FIN-33014, Finland; johanna.palmio{at}uta.fi

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Citation

Palmio J, Evilä A, Chapon F, et al

Hereditary myopathy with early respiratory failure: occurrence in various populations

Journal of Neurology, Neurosurgery & Psychiatry 2014;85:345-353.

Publication history

Received January 14, 2013
Revised March 24, 2013
Accepted March 27, 2013
First published April 19, 2013.

Online issue publication

April 13, 2016

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