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Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.

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作者单位: Department of Pathology and Genetics, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. [1] Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany. [2] Institute of Neuropathology, Medical Faculty, RWTH Aachen University, Aachen, Germany. [3] Department of Neurology, Neuromuscular Centre, Sahlgrenska University Hospital, Gothenburg, Sweden. [4] Department of Cardiology and Transplant Institute, Sahlgrenska University Hospital, Gothenburg, Sweden. [5] Department of Pediatrics, Skane University Hospital, Malmo, Sweden. [6] Department of Radiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. [7] Department of Clinical Sciences, Lund University, Lund, Sweden. [8] Department of Diagnostic and Interventional Radiology, Medical Faculty, RWTH Aachen University, Aachen, Germany. [9] Department of Plastic Surgery, Hand and Burn Surgery, Medical Faculty, RWTH Aachen University, Aachen, Germany. [10] Division of Cell Biology and Imaging, Department of Radiology, University of Massachusetts Medical School, Worcester, USA. [11] Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada. [12] Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada. [13] Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, Aachen, Germany. [14] Department of Invasive Electrophysiology, Medical Faculty, RWTH Aachen University, Aachen, Germany. [15] Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen, Germany. [16]
DOI 10.1093/brain/awaa206
PMID 32779703
发布时间 2021-08-10
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Brain : a journal of neurology

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