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MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy.

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第一作者： Matthias,Baumann

第一单位： Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.

作者： Matthias,Baumann ^[1] ; Herbert,Schreiber ^[2] ; Beate,Schlotter-Weigel ^[3] ; Wolfgang N,Löscher ^[4] ; Rolf,Stucka ^[3] ; Daniela,Karall ^[1] ; Tim M,Strom ^[5] ; Peter,Bauer ^[6] ; Birgit,Krabichler ^[7] ; Christine,Fauth ^[7] ; Dieter,Glaeser ^[8] ; Jan,Senderek ^[3]

作者单位： Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria. ^[1] Neurological Practice Center and Neuropoint Patient Academy, Ulm, Germany. ^[2] Friedrich-Baur-Institute at the Department of Neurology, University Hospital, Munich, Germany. ^[3] Clinical Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria. ^[4] Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, and Institute of Human Genetics, Technische Universität München, Munich, Germany. ^[5] Institute for Medical Genetics and Applied Genomics, Tübingen, Germany. ^[6] Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria. ^[7] Genetikum, Center for Human Genetics, Neu-Ulm, Germany. ^[8]

关键词 MPV17 MTDPS6 NNH Navajo neurohepatopathy axonal sensorimotor polyneuropathy mitochondrial DNA depletion syndrome 6