Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.
Autorzy :
Lornage X; Institute of Genetics and Molecular and Cellular Biology, Illkirch, France.; National Institute of Health and Medical Research, Illkirch, France.; National Center for Scientific Research, Illkirch, France.; Strasbourg Federation of Translational Medicine, University of Strasbourg, Illkirch, France. Malfatti E; Sorbonne Universities, Pierre and Marie Curie University, National Institute of Health and Medical Research, National Center for Scientific Research, Center for Research in Myology, Pitié-Salpêtrière Hospital, Paris, France.; Unit of Neuromuscular Morphology, Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.; Reference Center for Neuromuscular Pathology Paris-East, Institute of Myology, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France. Chéraud C; Institute of Genetics and Molecular and Cellular Biology, Illkirch, France.; National Institute of Health and Medical Research, Illkirch, France.; National Center for Scientific Research, Illkirch, France.; Strasbourg Federation of Translational Medicine, University of Strasbourg, Illkirch, France. Schneider R; Institute of Genetics and Molecular and Cellular Biology, Illkirch, France.; National Institute of Health and Medical Research, Illkirch, France.; National Center for Scientific Research, Illkirch, France.; Strasbourg Federation of Translational Medicine, University of Strasbourg, Illkirch, France.; Department of Computer Science, ICube, National Center for Scientific Research, Strasbourg, France. Biancalana V; Institute of Genetics and Molecular and Cellular Biology, Illkirch, France.; National Institute of Health and Medical Research, Illkirch, France.; National Center for Scientific Research, Illkirch, France.; Strasbourg Federation of Translational Medicine, University of Strasbourg, Illkirch, France.; Diagnostic Genetic Laboratory, New Civil Hospital, Regional University Hospital Center, Strasbourg, France. Cuisset JM; Department of Neuropediatrics, Reference Center for Neuromuscular Diseases, Roger-Salengro Hospital, Regional University Hospital Center, Lille, France. Garibaldi M; Unit of Neuromuscular Morphology, Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.; Unit of Neuromuscular Diseases, Department of Neurology, Mental Health, and Sensory Organs, Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy.; Neuromuscular Diseases Centre, Department of Clinical Neurosciences, University Hospital of Nice, Nice, France. EymardB; Sorbonne Universities, Pierre and Marie Curie University, National Institute of Health and Medical Research, National Center for Scientific Research, Center for Research in Myology, Pitié-Salpêtrière Hospital, Paris, France.; Reference Center for Neuromuscular Pathology Paris-East, Institute of Myology, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France. Fardeau M; Sorbonne Universities, Pierre and Marie Curie University, National Institute of Health and Medical Research, National Center for Scientific Research, Center for Research in Myology, Pitié-Salpêtrière Hospital, Paris, France.; Unit of Neuromuscular Morphology, Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.; Reference Center for Neuromuscular Pathology Paris-East, Institute of Myology, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France. Boland A; National Genotyping Center, Genomics Institute, Office of Atomic Energy and Alternative Energies, Evry, France. Deleuze JF; National Genotyping Center, Genomics Institute, Office of Atomic Energy and Alternative Energies, Evry, France. Thompson J; Department of Computer Science, ICube, National Center for Scientific Research, Strasbourg, France. Carlier RY; Department of Radiology, Neurolocomotor Division, Raymond Poincaré Hospital, University Hospitals Paris-Ile-de-France West, Public Hospital Network of Paris, Garches, France.; Versailles Saint-Quentin-en-Yvelines University, Versailles, France. Böhm J; Institute of Genetics and Molecular and Cellular Biology, Illkirch, France.; National Institute of Health and Medical Research, Illkirch, France.; National Center for Scientific Research, Illkirch, France.; Strasbourg Federation of Translational Medicine, University of Strasbourg, Illkirch, France. Romero NB; Sorbonne Universities, Pierre and Marie Curie University, National Institute of Health and Medical Research, National Center for Scientific Research, Center for Research in Myology, Pitié-Salpêtrière Hospital, Paris, France.; Unit of Neuromuscular Morphology, Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.; Reference Center for Neuromuscular Pathology Paris-East, Institute of Myology, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France. Laporte J; Institute of Genetics and Molecular and Cellular Biology, Illkirch, France.; National Institute of Health and Medical Research, Illkirch, France.; National Center for Scientific Research, Illkirch, France.; Strasbourg Federation of Translational Medicine, University of Strasbourg, Illkirch, France.
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Źródło :
Annals of neurology [Ann Neurol] 2017 Mar; Vol. 81 (3), pp. 467-473. Date of Electronic Publication: 2017 Mar 20.
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