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1FC2.5 Recessive mutations in the skeletal muscle ryanodine receptor (RYR1) gene may mimick X-linked centronuclear (myotubular) myopathy (XLMTM)
Authors:A.D. Gika  S. Lillis  T. Cullup  I. Bodi  P. Manta  R. Pons  E. Yatrakou  K. Karachristou  M. Tzeti  S. Youroukos  F. Muntoni  S. Abbs  H. Jungbluth
Affiliation:1. Department of Medical Genetics, University of Helsinki, P.O. Box 211, 00251 Helsinki, Finland;2. The Folkhälsan Department of Medical Genetics, Helsinki, Finland;1. CSS Mendel Institute, Rome, Italy;2. Department of Biopathology and Diagnostic Imaging, Tor Vergata University of Rome, Rome, Italy;3. Department of Experimental Medicine and Pathology, La Sapienza University of Rome, Rome, Italy;1. Department of Rehabilitation Medicine, University of Washington, Seattle, WA 98104, USA;2. Institute for Stem Cell and Regenerative Medicine, School of Medicine, University of Washington, Seattle, WA 98107, USA;3. Genethon, 91000 Evry, France;4. INSERM, UMR_S951, 91002 Evry, France;5. Department of Comparative Medicine, University of Washington, Seattle, WA 98195, USA;6. Department of Human Nutrition, Foods, and Exercise, Virginia Polytechnic Institute and State University, Blacksburg, VA 24061, USA;7. Neuromuscular Physiology and Evaluation Lab, Institut de Myologie, 75651 Paris, France;8. Division of Pediatric Pathology, Department of Pathology and Laboratory Medicine, Medical College of Wisconsin, Milwaukee, WI 53226, USA;9. Department of Biomedical Engineering, University of Florida, Gainesville, FL 32611, USA;10. Audentes Therapeutics, San Francisco, CA 94108, USA;11. Department of Biomedical Informatics and Medical Education, University of Washington, Seattle, WA 98019, USA;12. Department of Physical Therapy, University of Florida, Gainesville, FL 32610, USA;13. Department of Medicine, Medical College of Wisconsin, Milwaukee, WI 53226, USA;14. Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, WI 53226, USA;15. Cardiovascular Center, Medical College of Wisconsin, Milwaukee, WI 53226, USA;16. The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, USA;17. Institut de Myologie, University Pierre and Marie Curie, 75005 Paris, France;1. Neuromuscular Diseases Group, Department of Comparative Biomedical Sciences, Royal Veterinary College, Royal College Street, London NW1 0TU, UK;1. Department of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), 1, rue Laurent Fries, BP10142, 67404 Illkirch, France;2. U964, Institut National de la Santé et de la Recherche Médicale, Illkirch, France;3. UMR7104, Centre National de la Recherche Scientifique, Illkirch, France;4. Université de Strasbourg, France;5. Chaire de Génétique Humaine, Collège de France, Illkirch, France;6. Department of Medicine, School of Medicine, Case Western Reserve University, Cleveland, OH 44106, USA
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