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Research paper
Limb girdle muscular dystrophy due to mutations in POMT2

Authors

  • Sofie Thurø Østergaard Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Kobenhavn, Denmark PubMed articlesGoogle scholar articles
  • Katherine Johnson John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK PubMed articlesGoogle scholar articles
  • Tanya Stojkovic AP-HP, Institute of Myology, Centre de reference des maladies neuromusculaires Paris Est, G-H Pitié-Salpêtrière, France PubMed articlesGoogle scholar articles
  • Thomas Krag Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Kobenhavn, Denmark PubMed articlesGoogle scholar articles
  • Willem De Ridder Neurogenetics Group, Center for Molecular Neurology, Vlaams Instituut voor Biotechnologie, Antwerp, Belgium Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium Department of Neurology, Neuromuscular Reference Centre, Antwerp University Hospital, Antwerpen, Belgium PubMed articlesGoogle scholar articles
  • Peter De Jonghe Neurogenetics Group, Center for Molecular Neurology, Vlaams Instituut voor Biotechnologie, Antwerp, Belgium Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium Department of Neurology, Neuromuscular Reference Centre, Antwerp University Hospital, Antwerpen, Belgium PubMed articlesGoogle scholar articles
  • Jonathan Baets Neurogenetics Group, Center for Molecular Neurology, Vlaams Instituut voor Biotechnologie, Antwerp, Belgium Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium Department of Neurology, Neuromuscular Reference Centre, Antwerp University Hospital, Antwerpen, Belgium PubMed articlesGoogle scholar articles
  • Kristl G Claeys Department of Neurology, Neuromuscular Reference Centre, University Hospitals Leuven, Leuven, Belgium Department of Neurosciences, Experimental Neurology, Laboratory for Muscle Diseases and Neuropathies, Katholieke Universiteit Leuven, Leuven, Belgium PubMed articlesGoogle scholar articles
  • Roberto Fernández-Torrón Department of Neurology, Donostia University Hospital, Biodonostia Health Research Institute, Donostia-San Sebastián, Spain PubMed articlesGoogle scholar articles
  • Lauren Phillips John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK PubMed articlesGoogle scholar articles
  • Ana Topf John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK PubMed articlesGoogle scholar articles
  • Jaume Colomer Servei de Neurologia, Hospital Sant Joan de Déu, Unitatde Patología Neuromuscular, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Shahriar Nafissi Department of Neurology, Iranian Center of Neurological Research, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran PubMed articlesGoogle scholar articles
  • Shirin Jamal-Omidi Department of Neurology, Iranian Center of Neurological Research, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran PubMed articlesGoogle scholar articles
  • Celine Bouchet-Seraphin Département de Biochimie et de Génétique, AP-HP, Hôpital Bichat, Paris, France PubMed articlesGoogle scholar articles
  • France Leturcq Laboratoire de Génétique et Biologie Moleculaires Hopital Cochin, Paris, France PubMed articlesGoogle scholar articles
  • Daniel G MacArthur Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA PubMed articlesGoogle scholar articles
  • Monkol Lek Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA PubMed articlesGoogle scholar articles
  • Liwen Xu Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA PubMed articlesGoogle scholar articles
  • Isabelle Nelson Center of Research in Myology, Institutede Myologie, Paris, France PubMed articlesGoogle scholar articles
  • Volker Straub John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK PubMed articlesGoogle scholar articles
  • John Vissing Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Kobenhavn, Denmark PubMed articlesGoogle scholar articles
  1. Correspondence to Miss Sofie Thurø Østergaard, Copenhagen Neuromuscular Center, Rigshospitalet, 3342, Blegdamsvej 9, DK-2100 Copenhagen, Denmark; sofie.thuroe.oestergaard.02{at}regionh.dk
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Citation

Østergaard ST, Johnson K, Stojkovic T, et al
Limb girdle muscular dystrophy due to mutations in POMT2

Publication history

  • Received August 18, 2017
  • Revised October 13, 2017
  • Accepted October 26, 2017
  • First published November 24, 2017.
Online issue publication 
April 12, 2018

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