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Genotype-phenotype correlations
Original article
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

Authors

  • Johann Böhm Department of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch, France Inserm, U964, Illkirch, France CNRS, UMR7104, Illkirch, France University of Strasbourg, Illkirch, France Collège de France, Chaire de Génétique Humaine, Illkirch, France PubMed articlesGoogle scholar articles
  • Frédéric Chevessier Department of Neuropathology, University Hospital Erlangen, Erlangen, Germany PubMed articlesGoogle scholar articles
  • Catherine Koch Department of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch, France Inserm, U964, Illkirch, France CNRS, UMR7104, Illkirch, France University of Strasbourg, Illkirch, France Collège de France, Chaire de Génétique Humaine, Illkirch, France PubMed articlesGoogle scholar articles
  • G Arielle Peche Department of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch, France Inserm, U964, Illkirch, France CNRS, UMR7104, Illkirch, France University of Strasbourg, Illkirch, France Collège de France, Chaire de Génétique Humaine, Illkirch, France PubMed articlesGoogle scholar articles
  • Marina Mora Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy Muscle Cell Biology Lab, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy PubMed articlesGoogle scholar articles
  • Lucia Morandi Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy PubMed articlesGoogle scholar articles
  • Barbara Pasanisi Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy PubMed articlesGoogle scholar articles
  • Isabella Moroni Child Neurology Department, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy PubMed articlesGoogle scholar articles
  • Giorgio Tasca Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, Rome, Italy PubMed articlesGoogle scholar articles
  • Fabiana Fattori Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, Rome, Italy PubMed articlesGoogle scholar articles
  • Enzo Ricci Institute of Neurology, Catholic University School of Medicine, Rome, Italy PubMed articlesGoogle scholar articles
  • Isabelle Pénisson-Besnier Neurology Department, Centre de Référence des Maladies Neuromusculaires, Centre Hospitalier Universitaire d'Angers, Angers, France PubMed articlesGoogle scholar articles
  • Aleksandra Nadaj-Pakleza Neurology Department, Centre de Référence des Maladies Neuromusculaires, Centre Hospitalier Universitaire d'Angers, Angers, France PubMed articlesGoogle scholar articles
  • Michel Fardeau Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Paris, France Institut de Myologie, GHU La Pitié-Salpêtrière, Paris, France PubMed articlesGoogle scholar articles
  • Pushpa Raj Joshi Department of Neurology, Martin-Luther-University Halle-Wittenberg, Halle (Saale), Germany PubMed articlesGoogle scholar articles
  • Marcus Deschauer Department of Neurology, Martin-Luther-University Halle-Wittenberg, Halle (Saale), Germany PubMed articlesGoogle scholar articles
  • Norma Beatriz Romero Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Paris, France Institut de Myologie, GHU La Pitié-Salpêtrière, Paris, France PubMed articlesGoogle scholar articles
  • Bruno Eymard Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Paris, France PubMed articlesGoogle scholar articles
  • Jocelyn Laporte Department of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch, France Inserm, U964, Illkirch, France CNRS, UMR7104, Illkirch, France University of Strasbourg, Illkirch, France Collège de France, Chaire de Génétique Humaine, Illkirch, France PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Jocelyn Laporte, IGBMC, 1 Rue Laurent Fries, Illkirch 67404, France; jocelyn{at}igbmc.fr, Isabelle Pénisson-Besnier died on July 11th, 2013
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Citation

Böhm J, Chevessier F, Koch C, et al
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1
Journal of Medical Genetics 2014;51:824-833.

Publication history

  • Received July 7, 2014
  • Revised September 23, 2014
  • Accepted September 25, 2014
  • First published October 17, 2014.
Online issue publication 
April 27, 2016

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