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Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease.

Autor: Thompson K; Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK., Bianchi L; INSERM UMR1163, Université Paris Cité, Institut Imagine, 75015 Paris, France., Rastelli F; Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK., Piron-Prunier F; Université Paris-Saclay, CEA, CNRS, Institute for Integrative Biology of the Cell (I2BC), 91198 Gif-sur-Yvette, France., Ayciriex S; Univ Lyon, CNRS, Université Claude Bernard Lyon 1, Institut des Sciences Analytiques, UMR 5280, 5 rue de la Doua, 69100 Villeurbanne, France., Besmond C; INSERM UMR1163, Université Paris Cité, Institut Imagine, 75015 Paris, France., Hubert L; INSERM UMR1163, Université Paris Cité, Institut Imagine, 75015 Paris, France., Barth M; Service de Génétique, Centre Hospitalier Universitaire Angers, Angers, France., Barbosa IA; Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London SE1 9RT, UK., Deshpande C; Clinical Genetics Unit, Guys and St. Thomas' NHS Foundation Trust, London SE1 9RT, UK., Chitre M; Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK., Mehta SG; Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK., Wever EJM; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry and Pediatrics, Amsterdam Gastroenterology Endocrinology Metabolism, 1105 AZ Amsterdam, the Netherlands.; Bioinformatics Laboratory, Department of Epidemiology & Data Science, Amsterdam Public Health research institute, 1100 DE Amsterdam UMC, University of Amsterdam, the Netherlands.; Core Facility Metabolomics, Amsterdam UMC, 1105 Amsterdam, the Netherlands., Marcorelles P; Department of Pathology, EA4586 LIEN Université de Brest, CHRU Brest, 29609 Brest, France., Donkervoort S; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Saade D; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Bönnemann CG; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Chao KR; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Cai C; Departments of Pediatrics and Neurology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Iannaccone ST; Departments of Pediatrics and Neurology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Dean AF; Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK.; Department of Histopathology, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK., McFarland R; Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne NE1 4LP, UK., Vaz FM; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry and Pediatrics, Amsterdam Gastroenterology Endocrinology Metabolism, 1105 AZ Amsterdam, the Netherlands.; Core Facility Metabolomics, Amsterdam UMC, 1105 Amsterdam, the Netherlands.; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, 1105 AZ Amsterdam, the Netherlands., Delahodde A; Université Paris-Saclay, CEA, CNRS, Institute for Integrative Biology of the Cell (I2BC), 91198 Gif-sur-Yvette, France., Taylor RW; Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne NE1 4LP, UK., Rötig A; INSERM UMR1163, Université Paris Cité, Institut Imagine, 75015 Paris, France.

Publikováno v: HGG advances [HGG Adv] 2022 Mar 04; Vol. 3 (2), pp. 100097. Date of Electronic Publication: 2022 Mar 04 (Print Publication: 2022).