首页> European journal of human genetics : EJHG> Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation.

Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation.

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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] ; Elisabeth,Steichen-Gersdorf ^[1] ; Birgit,Krabichler ^[2] ; Britt-Sabina,Petersen ^[3] ; Ulrike,Weber ^[4] ; Wolfgang M,Schmidt ^[5] ; Johannes,Zschocke ^[2] ; Thomas,Müller ^[1] ; Reginald E,Bittner ^[5] ; Andreas R,Janecke ^[6]

作者单位： Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria. ^[1] Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria. ^[2] Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel, Kiel, Germany. ^[3] Department of Pediatrics, Krankenhaus Dornbirn, Dornbirn, Austria. ^[4] Neuromuscular Research Department, Center for Anatomy and Cell Biology, Medical University of Vienna, Vienna, Austria. ^[5] Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.;Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria. ^[6]