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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.
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
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  Data: Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction.
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  Data: <searchLink fieldCode="AU" term="%22Belle+K%22">Belle K</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kreymerman+A%22">Kreymerman A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Young+JL%22">Young JL</searchLink>; Department of Pediatrics, Kaiser Permanente, Sacramento, CA, United States of America.<br /><searchLink fieldCode="AU" term="%22Vadgama+N%22">Vadgama N</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Ji+MH%22">Ji MH</searchLink>; Department of Ophthalmology, Byers Eye Institute, Stanford University School of Medicine, Palo Alto, CA, United States of America.<br /><searchLink fieldCode="AU" term="%22Randhawa+S%22">Randhawa S</searchLink>; Associated Retinal Consultants at William Beaumont Hospital, Royal Oak, MI, United States of America.<br /><searchLink fieldCode="AU" term="%22Caicedo+J%22">Caicedo J</searchLink>; Broad Institute, Cambridge, MA, United States of America.<br /><searchLink fieldCode="AU" term="%22Wong+M%22">Wong M</searchLink>; Department of Ophthalmology, Byers Eye Institute, Stanford University School of Medicine, Palo Alto, CA, United States of America.<br /><searchLink fieldCode="AU" term="%22Muscat+SP%22">Muscat SP</searchLink>; Department of Ophthalmology, Byers Eye Institute, Stanford University School of Medicine, Palo Alto, CA, United States of America.<br /><searchLink fieldCode="AU" term="%22Gifford+CA%22">Gifford CA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lee+RT%22">Lee RT</searchLink>; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA, United States of America.<br /><searchLink fieldCode="AU" term="%22Nasir+J%22">Nasir J</searchLink>; Division of Life Sciences, University of Northampton, UK.<br /><searchLink fieldCode="AU" term="%22Enns+GM%22">Enns GM</searchLink>; Department of Pediatric Genetics, Stanford University School of Medicine, Lucille Packard Children's Hospital, Palo Alto, CA, United States of America.<br /><searchLink fieldCode="AU" term="%22Karakikes+I%22">Karakikes I</searchLink>; Department of Cardiothoracic Surgery, Stanford University School of Medicine, Palo Alto, CA, United States of America.<br /><searchLink fieldCode="AU" term="%22Schaefer+AM%22">Schaefer AM</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Taylor+RW%22">Taylor RW</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Mercola+M%22">Mercola M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Koeberl+D%22">Koeberl D</searchLink>; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC, United States of America. Electronic address: dwight.koeberl@duke.edu.<br /><searchLink fieldCode="AU" term="%22Wood+EH%22">Wood EH</searchLink>; 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.
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