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Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies

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第一作者: Davidson,A.E.
作者单位: Department of Pathology (Neuropathology), University of Washington, Seattle, WA 98195, United States [1] Department of Pathology, University of Iowa, Iowa City, IA 52242, United States [2] Department of Neurology, Frenchay Hospital, Bristol BS16 1LE, United Kingdom [3] Diagnostics Genetics Laboratory, GSTS Pathology, Guy's Hospital, London SE1 9RT, United Kingdom [4] Department of Neuropathology, University of Bristol, Frenchay Hospital, Bristol BS16 1LE, United [5] Department of Human Genetics, University of Michigan Medical Centre, Ann Arbor, MI 48109-2200 [6] Department of Clinical Genetics, University Hospitals Bristol NHS Trust, Bristol, BS1 3NU, United [7] Department of Medicinal Chemistry, College of Pharmacy, University of Michigan, Ann Arbor, MI 48109 [8] Department of Neurology, University of Washington, Seattle, WA 98195, United States [9] Department of Neurological Surgery, University of Washington, Seattle, WA 98195, United States [10] Department of Paediatric Neurology, Frenchay Hospital, Bristol BS16 1LE, United Kingdom [11] Department of Paediatric Neurology, Evelina Children's Hospital, St Thomas' Hospital, London SE1 [12] Department of Pathology, University Hospital, Birmingham B9 5SS, United Kingdom [13] PreventionGenetics, Marshfield, WI 54449, United States [14] Department of Neurology, Southern Illinois University School of Medicine, Springfield, IL 62794 [15] Department of Paediatric Neurology, Birmingham Heartlands Hospital, Birmingham B9 5SS, United [16] Department of Paediatrics, University of Michigan Medical Centre, Ann Arbor, MI 48109-2200, United [17] Department of Paediatric Neurology, Bristol Royal Hospital for Children, Bristol BS28BJ, United [18] Department of Paediatrics, Children's Hospital, Technical University, Fetscherstrasse 74, Dresden [19] Department of Pathology, Southern Illinois University School of Medicine, Springfield, IL 62794 [20]
发布时间 2013-11-20
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Brain: A journal of neurology

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