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Early onset collagen VI myopathies: Genetic and clinical correlations

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第一作者: Bri?as,L.
作者单位: Genetics Division, Bretonneau University Hospital, Tours, France [1] Assistance Publique-Hǒpitaux de Paris, Pediatric Division, Raymond Poincaré Hospital, Garches [2] Nerve-Muscle Unit, Neurology Division, BH07/309, University Hospital Vaudois, Lausanne, Switzerland [3] Paris-Est Neuromuscular Disease Referal Centre, Myology Institute, Pitié-Salpětrière Hospital Group [4] Inserm, U582, Paris, France, UPMC University of Paris 06, IFR14, Myology Institute, Paris, France [5] Medical Genetics Division, DGR, Clémenceau University Hospital, Caen, France [6] Dominiek Savio Instituut Gits, Roeselare, Belgium [7] Department of Pathology, Garrahan National Pediatric Hospital, Buenos Aires, Argentina [8] Neurology Division, Ali Ait Idir Specialized Hospital, Alger, Algeria [9] Section of Neurology, Department of Pediatrics, Hacettepe Children's Hospital, Ankara, Turkey [10] Department of Pathological Anatomy, Hospital Meixoeiro, Vigo University Hospital, Vigo, Spain [11] Neuromuscular Disease Reference Center, Department of Neurology, University Hospital, Angers, France [12] University Hospital of Montpellier, Neuropediatry Division, Gui de Chauliac Hospital, Montpellier [13] Assistance Publique-Hǒpitaux de Paris, Department of Neuropediatrics, Necker-Enfants Malades [14] Armand Trousseau Hospital, Neuropediatry Division, Neuromuscular Disease Center, Paris, France [15] Department of Clinical Genetics, University Hospital Maastricht, Maastricht, Netherlands [16] AP-HP, Pitié -Salpětrière Hospital Group, Metabolic Biochemistry Division, Paris, France [17] Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of [18] Department of Neuropathology/FLENI, Institute for Neurological Research, Buenos Aires, Argentina [19] Neuropediatry Division, CHUV-BH11, Lausanne, Switzerland [20] Neurology Division, Strasbourg University Hospitals, Strasbourg, France [21] Cliniq Sainte-Odile, Strasbourg, France [22] Department of Neuropediatrics, Garrahan National Pediatric Hospital, Buenos Aires, Argentina [23]
发布时间 2014-03-29
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Annals of neurology

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