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Copy-number variation
Original research
Titin copy number variations associated with dominant inherited phenotypes

Authors

  • Aurélien Perrin Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, Montpellier, France PhyMedExp, Université de Montpellier, INSERM, CNRS, Montpellier, France PubMed articlesGoogle scholar articles
  • Corinne Métay Unité Fonctionnelle de Cardiogénétique et Myogénétique moléculaire et cellulaire, Centre de Génétique Moléculaire et Chromosomique, Groupe Hospitalier La Pitié-Salpêtrière-Charles Foix, Paris, France Sorbonne Université, INSERM, Institut de Myologie, Centre de Recherche en Myologie, Paris, France PubMed articlesGoogle scholar articles
  • Marco Savarese Tampere Neuromuscular Center, Folkhälsan Research Center, Helsinki, Finland PubMed articlesGoogle scholar articles
  • Rabah Ben Yaou Sorbonne Université, INSERM, Institut de Myologie, Centre de Recherche en Myologie, Paris, France PubMed articlesGoogle scholar articles
  • German Demidov Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tubingen, Germany PubMed articlesGoogle scholar articles
  • Isabelle Nelson Sorbonne Université, INSERM, Institut de Myologie, Centre de Recherche en Myologie, Paris, France PubMed articlesGoogle scholar articles
  • Guilhem Solé CHU de Bordeaux, AOC National Reference Center for Neuromuscular Disorders, Bordeaux, France PubMed articlesGoogle scholar articles
  • Yann Péréon Department of Clinical Neurophysiology, Reference Centre for Neuromuscular Diseases AOC, Filnemus, Euro-NMD, CHU Nantes, Nantes Université, Place Alexis-Ricordeau, Nantes, France PubMed articlesGoogle scholar articles
  • Enrico Silvio Bertini Unit of Muscular and Neurodegenerative Disorders, Bambino Gesù Children Research Hospital, IRCCS, Rome, Italy PubMed articlesGoogle scholar articles
  • Fabiana Fattori Unit of Muscular and Neurodegenerative Disorders, Bambino Gesù Children Research Hospital, IRCCS, Rome, Italy PubMed articlesGoogle scholar articles
  • Adele D'Amico Unit of Muscular and Neurodegenerative Disorders, Bambino Gesù Children Research Hospital, IRCCS, Rome, Italy PubMed articlesGoogle scholar articles
  • Federica Ricci Division of Child and Adolescent Neuropsychiatry, University of Turin, Turin, Italy PubMed articlesGoogle scholar articles
  • Mira Ginsberg Department of Pediatric Neurology, Wolfson Medical Center, Holon, Israel PubMed articlesGoogle scholar articles
  • Andreea Seferian Institut I-MOTION, Hôpital Armand Trousseau, Paris, France PubMed articlesGoogle scholar articles
  • Odile Boespflug-Tanguy Institut I-MOTION, Hôpital Armand Trousseau, Paris, France UMR 1141, INSERM, NeuroDiderot Université Paris Cité and APHP, Neuropédiatrie, French Reference Center for Leukodystrophies, LEUKOFRANCE, Hôpital Robert Debré, Paris, France PubMed articlesGoogle scholar articles
  • Laurent Servais Institut I-MOTION, Hôpital Armand Trousseau, Paris, France MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK Neuromuscular Reference Center, Division of Paediatrics, University and Hospital University of Liège, Liège, Belgium PubMed articlesGoogle scholar articles
  • Françoise Chapon Département de pathologie, Centre de Compétence des Maladies Neuromusculaires, Centre Hospitalier Universitaire de Caen, Caen, France PubMed articlesGoogle scholar articles
  • Emmeline Lagrange Centre de Compétences des Maladies Neuro Musculaires, Centre Hospitalier Universitaire Grenoble Alpes, Grenoble, France PubMed articlesGoogle scholar articles
  • Karen Gaudon Unité Fonctionnelle de Cardiogénétique et Myogénétique moléculaire et cellulaire, Centre de Génétique Moléculaire et Chromosomique, Groupe Hospitalier La Pitié-Salpêtrière-Charles Foix, Paris, France PubMed articlesGoogle scholar articles
  • Adrien Bloch Unité Fonctionnelle de Cardiogénétique et Myogénétique moléculaire et cellulaire, Centre de Génétique Moléculaire et Chromosomique, Groupe Hospitalier La Pitié-Salpêtrière-Charles Foix, Paris, France PubMed articlesGoogle scholar articles
  • Robin Ghanem Unité Fonctionnelle de Cardiogénétique et Myogénétique moléculaire et cellulaire, Centre de Génétique Moléculaire et Chromosomique, Groupe Hospitalier La Pitié-Salpêtrière-Charles Foix, Paris, France PubMed articlesGoogle scholar articles
  • Lucie Guyant-Maréchal Department of Neurophysiology, Rouen University Hospital, Rouen, France PubMed articlesGoogle scholar articles
  • Mridul Johari Tampere Neuromuscular Center, Folkhälsan Research Center, Helsinki, Finland Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia PubMed articlesGoogle scholar articles
  • Charles Van Goethem Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, Montpellier, France Montpellier BioInformatique pour le Diagnostic Clinique (MOBIDIC), Plateau de Médecine Moléculaire et Génomique (PMMG), CHU Montpellier, Montpellier, France PubMed articlesGoogle scholar articles
  • Michel Fardeau Sorbonne Université, INSERM, Institut de Myologie, Centre de Recherche en Myologie, Paris, France PubMed articlesGoogle scholar articles
  • Raul Juntas Morales Department of Neurology, Hospital Universitario Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Casie A Genetti Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA PubMed articlesGoogle scholar articles
  • Minttu Marttila Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA HiLIFE Helsinki Institute of Life Science, Tukholmankatu 8, FI-00014, University of Helsinki, Helsinki, Finland PubMed articlesGoogle scholar articles
  • Michel Koenig Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, Montpellier, France PhyMedExp, Université de Montpellier, INSERM, CNRS, Montpellier, France PubMed articlesGoogle scholar articles
  • Alan H Beggs Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA PubMed articlesGoogle scholar articles
  • Bjarne Udd Tampere Neuromuscular Center, Folkhälsan Research Center, Helsinki, Finland PubMed articlesGoogle scholar articles
  • Gisèle Bonne Sorbonne Université, INSERM, Institut de Myologie, Centre de Recherche en Myologie, Paris, France PubMed articlesGoogle scholar articles
  • Mireille Cossée Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, Montpellier, France PhyMedExp, Université de Montpellier, INSERM, CNRS, Montpellier, France PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Mireille Cossée, Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France; mireille.cossee{at}inserm.fr; Dr Aurélien Perrin, Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France; aurelien.perrin{at}ext.inserm.fr
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Citation

Perrin A, Métay C, Savarese M, et al
Titin copy number variations associated with dominant inherited phenotypes
Journal of Medical Genetics 2024;61:369-377.

Publication history

  • Received June 22, 2023
  • Accepted October 18, 2023
  • First published November 7, 2023.
Online issue publication 
March 21, 2024

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© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.