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Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.

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Title: Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.
Authors: Armirola-Ricaurte C; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp 2610, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp 2610, Belgium., Morant L; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp 2610, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp 2610, Belgium., Adant I; Laboratory of Hepatology, Department of Chronic Diseases, Metabolism and Ageing, Katholieke Universiteit Leuven, Leuven 3000, Belgium.; Department of Pediatrics, University Hospitals Leuven, Leuven 3000, Belgium., Hamed SA; Department of Neurology and Psychiatry, Assiut University Hospitals, Assiut 2074020, Egypt., Pipis M; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Neuropathology Department and Center for Neuromuscular Disorders, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus., Efthymiou S; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Amor-Barris S; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp 2610, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp 2610, Belgium., Atkinson D; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp 2610, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp 2610, Belgium., Van de Vondel L; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp 2610, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium., Tomic A; Faculty of Medicine, University of Belgrade, Belgrade 11000, Serbia.; Neurology Clinic, University Clinical Center of Serbia, Belgrade 11000, Serbia., Seneca S; Clinical Sciences, Research Group Reproduction and Genetics, Centre for Medical Genetics, Universitair Ziekenhuis Brussel (UZ Brussel), Vrije Universiteit Brussel (VUB), Brussels 1090, Belgium., de Vriendt E; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp 2610, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp 2610, Belgium., Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Ghesquiere B; Metabolomics Expertise Center, Center for Cancer Biology, CCB-VIB, Leuven 3000, Belgium.; Metabolomics Expertise Center, Department of Oncology, Katholieke Universiteit Leuven, Leuven 3000, Belgium., Hanna MG; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Houlden H; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Lunn MP; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Reilly MM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Milic Rasic V; Faculty of Medicine, University of Belgrade, Belgrade 11000, Serbia.; Clinic for Neurology and Psychiatry for Children and Youth, Belgrade 11000, Serbia., Jordanova A; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp 2610, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp 2610, Belgium.; Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Sofia 1431, Bulgaria.
Source: Brain : a journal of neurology [Brain] 2026 Jan 08; Vol. 149 (1), pp. 178-193.
Publication Type: Journal Article
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.
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  Data: <searchLink fieldCode="AU" term="%22Armirola-Ricaurte+C%22">Armirola-Ricaurte C</searchLink>; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp 2610, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp 2610, Belgium.<br /><searchLink fieldCode="AU" term="%22Morant+L%22">Morant L</searchLink>; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp 2610, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp 2610, Belgium.<br /><searchLink fieldCode="AU" term="%22Adant+I%22">Adant I</searchLink>; Laboratory of Hepatology, Department of Chronic Diseases, Metabolism and Ageing, Katholieke Universiteit Leuven, Leuven 3000, Belgium.; Department of Pediatrics, University Hospitals Leuven, Leuven 3000, Belgium.<br /><searchLink fieldCode="AU" term="%22Hamed+SA%22">Hamed SA</searchLink>; Department of Neurology and Psychiatry, Assiut University Hospitals, Assiut 2074020, Egypt.<br /><searchLink fieldCode="AU" term="%22Pipis+M%22">Pipis M</searchLink>; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Neuropathology Department and Center for Neuromuscular Disorders, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.<br /><searchLink fieldCode="AU" term="%22Efthymiou+S%22">Efthymiou S</searchLink>; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Amor-Barris+S%22">Amor-Barris S</searchLink>; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp 2610, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp 2610, Belgium.<br /><searchLink fieldCode="AU" term="%22Atkinson+D%22">Atkinson D</searchLink>; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp 2610, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp 2610, Belgium.<br /><searchLink fieldCode="AU" term="%22Van+de+Vondel+L%22">Van de Vondel L</searchLink>; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp 2610, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium.<br /><searchLink fieldCode="AU" term="%22Tomic+A%22">Tomic A</searchLink>; Faculty of Medicine, University of Belgrade, Belgrade 11000, Serbia.; Neurology Clinic, University Clinical Center of Serbia, Belgrade 11000, Serbia.<br /><searchLink fieldCode="AU" term="%22Seneca+S%22">Seneca S</searchLink>; Clinical Sciences, Research Group Reproduction and Genetics, Centre for Medical Genetics, Universitair Ziekenhuis Brussel (UZ Brussel), Vrije Universiteit Brussel (VUB), Brussels 1090, Belgium.<br /><searchLink fieldCode="AU" term="%22de+Vriendt+E%22">de Vriendt E</searchLink>; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp 2610, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp 2610, Belgium.<br /><searchLink fieldCode="AU" term="%22Zuchner+S%22">Zuchner S</searchLink>; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.<br /><searchLink fieldCode="AU" term="%22Ghesquiere+B%22">Ghesquiere B</searchLink>; Metabolomics Expertise Center, Center for Cancer Biology, CCB-VIB, Leuven 3000, Belgium.; Metabolomics Expertise Center, Department of Oncology, Katholieke Universiteit Leuven, Leuven 3000, Belgium.<br /><searchLink fieldCode="AU" term="%22Hanna+MG%22">Hanna MG</searchLink>; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Lunn+MP%22">Lunn MP</searchLink>; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Reilly+MM%22">Reilly MM</searchLink>; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Milic+Rasic+V%22">Milic Rasic V</searchLink>; Faculty of Medicine, University of Belgrade, Belgrade 11000, Serbia.; Clinic for Neurology and Psychiatry for Children and Youth, Belgrade 11000, Serbia.<br /><searchLink fieldCode="AU" term="%22Jordanova+A%22">Jordanova A</searchLink>; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp 2610, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp 2610, Belgium.; Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Sofia 1431, Bulgaria.
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