Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction.
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| Title: | Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction. |
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| Authors: | Belle K; Department of Ophthalmology, Byers Eye Institute, Stanford University School of Medicine, Palo Alto, CA, United States of America; Stanford Cardiovascular Institute, Stanford University School of Medicine, Palo Alto, CA, United States of America., Kreymerman A; Department of Ophthalmology, Byers Eye Institute, Stanford University School of Medicine, Palo Alto, CA, United States of America; Stanford Cardiovascular Institute, Stanford University School of Medicine, Palo Alto, CA, United States of America; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA, United States of America., Young JL; Department of Pediatrics, Kaiser Permanente, Sacramento, CA, United States of America., Vadgama N; Stanford Cardiovascular Institute, Stanford University School of Medicine, Palo Alto, CA, United States of America; Department of Cardiothoracic Surgery, Stanford University School of Medicine, Palo Alto, CA, United States of America; Betty Irene Moore Children's Heart Center, BASE Research Initiative, Lucille Packard Children's Hospital, Palo Alto, CA, United States of America; Department of Pediatric Genetics, Stanford University School of Medicine, Lucille Packard Children's Hospital, Palo Alto, CA, United States of America., Ji MH; Department of Ophthalmology, Byers Eye Institute, Stanford University School of Medicine, Palo Alto, CA, United States of America., Randhawa S; Associated Retinal Consultants at William Beaumont Hospital, Royal Oak, MI, United States of America., Caicedo J; Broad Institute, Cambridge, MA, United States of America., Wong M; Department of Ophthalmology, Byers Eye Institute, Stanford University School of Medicine, Palo Alto, CA, United States of America., Muscat SP; Department of Ophthalmology, Byers Eye Institute, Stanford University School of Medicine, Palo Alto, CA, United States of America., Gifford CA; Betty Irene Moore Children's Heart Center, BASE Research Initiative, Lucille Packard Children's Hospital, Palo Alto, CA, United States of America; Department of Pediatric Genetics, Stanford University School of Medicine, Lucille Packard Children's Hospital, Palo Alto, CA, United States of America., Lee RT; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA, United States of America., Nasir J; Division of Life Sciences, University of Northampton, UK., Enns GM; Department of Pediatric Genetics, Stanford University School of Medicine, Lucille Packard Children's Hospital, Palo Alto, CA, United States of America., Karakikes I; Department of Cardiothoracic Surgery, Stanford University School of Medicine, Palo Alto, CA, United States of America., Schaefer AM; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK., Taylor RW; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK., Mercola M; Stanford Cardiovascular Institute, Stanford University School of Medicine, Palo Alto, CA, United States of America; Department of Cardiothoracic Surgery, Stanford University School of Medicine, Palo Alto, CA, United States of America., Koeberl D; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC, United States of America. Electronic address: dwight.koeberl@duke.edu., Wood EH; Department of Ophthalmology, Byers Eye Institute, Stanford University School of Medicine, Palo Alto, CA, United States of America; Austin Retina Associates and Dell Medical School Department of Ophthalmology, Austin, TX, United States of America. Electronic address: Ehuntw@gmail.com. |
| Source: | Molecular genetics and metabolism [Mol Genet Metab] 2025 Mar; Vol. 144 (3), pp. 109049. Date of Electronic Publication: 2025 Feb 07. |
| Publication Type: | Letter |
| Journal Info: | Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE; In Process |
| Database: | MEDLINE Ultimate |
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