首页> The Journal of clinical investigation> GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation.

GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation.

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第一作者： Patricia,Franzka

第一单位： Institute of Human Genetics, University Hospital Jena, Friedrich Schiller University, Jena, Germany.

作者： Patricia,Franzka ^[1] ; Henriette,Henze ^[2] ; M Juliane,Jung ^[2] ; Svenja Caren,Schüler ^[2] ; Sonnhild,Mittag ^[3] ; Karina,Biskup ^[4] ; Lutz,Liebmann ^[1] ; Takfarinas,Kentache ^[5] ; José,Morales ^[6] ; Braulio,Martínez ^[7] ; Istvan,Katona ^[8] ; Tanja,Herrmann ^[1] ; Antje-Kathrin,Huebner ^[1] ; J Christopher,Hennings ^[1] ; Susann,Groth ^[2] ; Lennart,Gresing ^[1] ; Rüdiger,Horstkorte ^[9] ; Thorsten,Marquardt ^[10] ; Joachim,Weis ^[8] ; Christoph,Kaether ^[2] ; Osvaldo M,Mutchinick ^[6] ; Alessandro,Ori ^[2] ; Otmar,Huber ^[3] ; Véronique,Blanchard ^[4] ; Julia,von Maltzahn ^[2] ; Christian A,Hübner ^[1]

作者单位： Institute of Human Genetics, University Hospital Jena, Friedrich Schiller University, Jena, Germany. ^[1] Leibniz-Institute on Aging - Fritz-Lipmann-Institute, Jena, Germany. ^[2] Department of Biochemistry II, University Hospital Jena, Friedrich Schiller University, Jena, Germany. ^[3] Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Laboratory Medicine, Clinical Chemistry and Pathobiochemistry, Berlin, Germany. ^[4] Welbio and de Duve Institute, Université Catholique de Louvain, Brussels, Belgium. ^[5] Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico. ^[6] Department of Pathology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico. ^[7] Institut für Neuropathologie, Institute of Neuropathology, RWTH Aachen University Hospital, Aachen, Germany. ^[8] Institut für Physiologische Chemie, Martin-Luther-Universität Halle-Wittenberg, Halle, Germany. ^[9] University Hospital Muenster, Department of Pediatrics, Muenster, Germany. ^[10]

关键词 Genetic diseases Muscle Biology