A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy.

导出 LinkOut

翻译打印收藏纠错

作者： Christopher B,Jackson ^[1] ; Dagmar,Hahn ^[2] ; Barbara,Schröter ^[3] ; Uwe,Richter ^[4] ; Brendan J,Battersby ^[5] ; Thomas,Schmitt-Mechelke ^[6] ; Paula,Marttinen ^[7] ; Jean-Marc,Nuoffer ^[8] ; André,Schaller ^[9]

作者单位： Institute of Clinical Chemistry, University Hospital Bern, Switzerland; Research Programs for Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Finland. Electronic address: christopher.jackson@helsinki.fi. ^[1] Institute of Clinical Chemistry, University Hospital Bern, Switzerland. ^[2] Department of Neuropaediatrics, Children's Hospital, Cantonal Hospital Lucerne, Switzerland. Electronic address: Schroeter.Barbara@bluewin.ch. ^[3] Institute of Biotechnology, University of Helsinki, Finland. Electronic address: Uwe.Richter@helsinki.fi. ^[4] Institute of Biotechnology, University of Helsinki, Finland. Electronic address: Brendan.Battersby@helsinki.fi. ^[5] Department of Neuropaediatrics, Children's Hospital, Cantonal Hospital Lucerne, Switzerland. Electronic address: Thomas.Schmitt@luks.ch. ^[6] Institute of Biotechnology, University of Helsinki, Finland. Electronic address: Paula.Marttinen@helsinki.fi. ^[7] Institute of Clinical Chemistry, University Hospital Bern, Switzerland. Electronic address: Jean-Marc.Nuoffer@insel.ch. ^[8] Division of Human Genetics, Bern, University Hospital Bern, Switzerland. Electronic address: Andre.Schaller@insel.ch. ^[9]

关键词 ATP synthase Complex V deficiency MT-ATP6 Mitochondrial DNA (mtDNA)Mitochondrial disease