Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family

Johanna Palmio; Anni Evilä; Ayat Bashir; Fiona Norwood; Kati Viitaniemi; Anna Vihola; Sanna Huovinen; Volker Straub; Peter Hackman; Michio Hirano; Kate Bushby; Bjarne Udd

doi:10.1136/jnnp-2014-309349

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Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family

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Johanna Palmio Department of Neurology, Neuromuscular Research Centre, Tampere University and University Hospital, Tampere, Finland PubMed articles Google scholar articles
Anni Evilä Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland PubMed articles Google scholar articles
Ayat Bashir Newcastle University, Newcastle upon Tyne, UK PubMed articles Google scholar articles
Fiona Norwood Department of Neurology, King's College Hospital, London, UK PubMed articles Google scholar articles
Kati Viitaniemi Department of Neurology, Neuromuscular Research Centre, Tampere University and University Hospital, Tampere, Finland PubMed articles Google scholar articles
Anna Vihola Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland PubMed articles Google scholar articles
Sanna Huovinen Department of Pathology, Fimlab Laboratories, Tampere University Hospital, Tampere, Finland PubMed articles Google scholar articles
Volker Straub Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, UK PubMed articles Google scholar articles
Peter Hackman Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland PubMed articles Google scholar articles
Michio Hirano Department of Neurology, Columbia University Medical Centre, New York, New York, USA PubMed articles Google scholar articles
Kate Bushby Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, UK PubMed articles Google scholar articles
Bjarne Udd Department of Neurology, Neuromuscular Research Centre, Tampere University and University Hospital, Tampere, Finland Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland Department of Neurology, Vasa Central Hospital, Vasa, Finland PubMed articles Google scholar articles

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

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Citation

Palmio J, Evilä A, Bashir A, et al

Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family

Journal of Neurology, Neurosurgery & Psychiatry 2016;87:448-450.

Publication history

Received August 28, 2014
Revised March 11, 2015
Accepted April 14, 2015
First published May 7, 2015.

Online issue publication

March 15, 2016

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