机译:SSBP1 突变导致复杂视神经萎缩障碍的 mtDNA 耗竭
Bambino Gesu Pediat Hosp, Dept Pediat Subspecialties, Div Nephrol, Rome, Italy;
UCB Pharma, Translat Med, Braine Lalleud, Belgium;
Med Univ Innsbruck, Dept Neurol, Innsbruck, AustriaSalzburger Landeskliniken, Dept Pediat, Salzburg, AustriaUniv Bologna, Dept Med & Surg Sci, Bologna, ItalyAnn Robert H Lurie Childrens Hosp Chicago, Stanley Manne Childrens Res Inst, Chicago, IL USAUniv Bologna, Dept Biomed & NeuroMotor Sci DIBINEM, Neurol Unit, Bologna, ItalyDuke Univ, Ctr Human Dis Modeling, Durham, NC USAFdn IRCCS Ist Neurol C Besta, Unit Med Genet & Neurogenet, Milan, ItalySt Orsola Malpighi Univ Hosp, Med Genet Unit, Via Massarenti 9, I-40138 Bologna, ItalyHelmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, GermanyIRCCS Ist Sci Neurol Bologna, UOC Clin Neurol, Via Altura 3, I-40139 Bologna, ItalyColumbia Univ, Inst Genom Med, New York, NY USAUniv Gothenburg, Inst Biomed, Dept Med Biochem & Cell Biol, Gothenburg, SwedenNatl Inst Environm Hlth Sci, Genome Integr & Struct Biol Lab, Res Triangle Pk, NC USAStudio Oculistico Azeglio, Dept Ophthalmol, Bologna, ItalyDuke Univ, Sch Med, Div Med Genet, Dept Pediat, Durham, NC USADuke Univ, Sch Med, Div Nephrol, Dept Pediat, Durham, NC USADuke Univ, Sch Med, Neuroophthalmol Serv, Durham, NC USADuke Univ, Sch Med, Ctr Retinal Degenerat & Ophthalm Genet Dis, Durham, NC USAUCB Pharma, Translat Med, Slough, Berks, EnglandIRCCS, Bambino Gesu Childrens Hosp, Dept Neurosci, Unit Muscular & Neurodegenerat Dis, Rome, Italy;