Niacin supplementation in a child with novel MTTN variant m.5670A>G causing early onset mitochondrial myopathy and NAD<sup>+</sup> deficiency.

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作者： Juho,Aaltio ^[1] ; Liliya,Euro ^[2] ; Olli,Tynninen ^[3] ; Hieu S,Vu ^[4] ; Min,Ni ^[4] ; Ralph J,DeBerardinis ^[5] ; Anu,Suomalainen ^[6] ; Pirjo,Isohanni ^[7]

作者单位： Research Programs Unit, Stem Cells and Metabolism Research, University of Helsinki, Helsinki, Finland. Electronic address: juho.aaltio@helsinki.fi. ^[1] Research Programs Unit, Stem Cells and Metabolism Research, University of Helsinki, Helsinki, Finland. ^[2] Department of Pathology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland. ^[3] Children's Medical Center Research Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA. ^[4] Children's Medical Center Research Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA; Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, Texas, USA. ^[5] Research Programs Unit, Stem Cells and Metabolism Research, University of Helsinki, Helsinki, Finland; HUS Diagnostic Centre, Helsinki University Hospital, Helsinki, Finland; HiLife, University of Helsinki, Helsinki, Finland. ^[6] Research Programs Unit, Stem Cells and Metabolism Research, University of Helsinki, Helsinki, Finland; Child Neurology, Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. ^[7]

关键词 MTTN Mitochondrial myopathy NAD+ deficiency Niacin Niacin supplementation tRNA-Asn