طبيب سوداني يكتشف الجين المورث لمرض ضمور العضلات

Quote: Original Article C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy Virginie Carmignac, MS 1 2, Mustafa A. M. Salih, MD 3, Susana Quijano-Roy, MD, PhD 1 2 4, Sylvie Marchand, PhD 5, Molham M. Al Rayess, MD, FCAP 6, Maowia M. Mukhtar, PhD 7, Jon A. Urtizberea, MD 8, Siegfried Labeit, MD 9, Pascale Guicheney, PhD 1 2, France Leturcq, PhD 10, Mathias Gautel, MD, PhD 11, Michel Fardeau, MD, PhD 1 2, Kevin P. Campbell, PhD 12, Isabelle Richard, PhD 5, Brigitte Estournet, MD 4, Ana Ferreiro, MD, PhD 1 2 * 1Institut National de la Sante et de la Recherche Médicale U582, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, France 2Université Pierre et Marie Curie, Paris, France 3Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, Riyadh, Saudi Arabia 4Service de Pédiatrie-Réanimation Infantile, Hôpital Raymond Poincaré, Garches, France 5Généthon, Centre National de la Recherche Scientifique, Unité Mixte de Recherche, 8115, Evry, France 6Department of Pathology, College of Medicine, Riyadh, Saudi Arabia 7Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan 8Hôpital Marin, Hendaye, France 9Institute for Anaesthesiology and Intensive Care, University Clinic Mannheim, Mannheim, Germany 10Laboratoire de Biochimie Génétique, Hôpital Cochin, Paris, France 11Muscle Signalling and Development, The Randall Division of Cell and Molecular Biophysics and the Cardiovascular Division, New Hunt's House, King's College London, London, United Kingdom 12Howard Hughes Medical Institute, Department of Physiology and Biophysics, Internal Medicine Neurology, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA email: Ana Ferreiro ([email protected]) *Correspondence to Ana Ferreiro, INSERM U582, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, 47 Boulevard de l'Hôpital, 75651 Paris, France Funded by: Institut National de la Sante et de la Recherche Médicale (INSERM) Association Française contre les Myopathies British Heart Foundation European Union MYORES network Medical Research Council of Great Britain; Grant Number: G0600251 Conseil Régional d'Ile-de France; Grant Number: R03069DS-RSE03004DSA Avenir Career Development Award; Grant Number: R03119DS-RAE03002DSA