Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome.

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第一作者： Dimitri,Renard

第一单位： Department of Neurology, CHU Nîmes, Hôpital Caremeau, Nîmes, France.

作者： Dimitri,Renard ^[1] ; Guillaume,Taieb ^[1] ; Matteo,Garibaldi ^[2] ; Andre,Maues De Paula ^[3] ; Rafaelle,Bernard ^[4] ; Nadira,Lagha ^[5] ; Gael,Cristofari ^[6] ; Catherine,Vovan ^[7] ; Charlène,Chaix ^[7] ; Nicolas,Lévy ^[4] ; Philippe,Khau Van Kien ^[8] ; Sabrina,Sacconi ^[9]

作者单位： Department of Neurology, CHU Nîmes, Hôpital Caremeau, Nîmes, France. ^[1] Peripheral Nervous System, Muscle and ALS Department, Nice University Hospital, Université Côte d'Azur, Nice, France.;Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy. ^[2] Neuropathology Laboratory, Faculty of Medicine of Marseille, Assistance Publique-Hôpitaux de Marseille, La Timone Hospital, Marseille, France. ^[3] Medical Genetic Department, Assistance Publique-Hôpitaux de Marseille, La Timone Hospital; Aix-Marseille University, Marseille, France.;INSERM GMGF UMR_S910, Marseille, France. ^[4] Faculty of Medicine, Institute for Research on Cancer and Aging of Nice (IRCAN), INSERM U1081, CNRS UMR 7284, Université Côte d'Azur (UCA), Nice, France. ^[5] Faculty of Medicine, Institute for Research on Cancer and Aging of Nice (IRCAN), INSERM U1081, CNRS UMR 7284, Université Côte d'Azur (UCA), Nice, France.;University Hospital Federation (FHU) OncoAge, CHU-Nice, University of Nice Sophia Antipolis, Nice, France. ^[6] Medical Genetic Department, Assistance Publique-Hôpitaux de Marseille, La Timone Hospital; Aix-Marseille University, Marseille, France. ^[7] Medical Genetics and Cytogenetics, CHU Nîmes, Hôpital Caremeau, Nîmes, France. ^[8] Peripheral Nervous System, Muscle and ALS Department, Nice University Hospital, Université Côte d'Azur, Nice, France.;Faculty of Medicine, Institute for Research on Cancer and Aging of Nice (IRCAN), INSERM U1081, CNRS UMR 7284, Université Côte d'Azur (UCA), Nice, France. ^[9]

关键词 18p deletion syndrome MRI facioscapulohumeral muscular dystrophy type 2 hypomethylation inflammatory muscle biopsy