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Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease.
Thompson, Kyle; Bianchi, Lucas; Rastelli, Francesca; Piron-Prunier, Florence; Ayciriex, Sophie; Besmond, Claude; Hubert, Laurence; Barth, Magalie; Barbosa, Inês A; Deshpande, Charu; Chitre, Manali; Mehta, Sarju G; Wever, Eric J M; Marcorelles, Pascale; Donkervoort, Sandra; Saade, Dimah; Bönnemann, Carsten G; Chao, Katherine R; Cai, Chunyu; Iannaccone, Susan T; Dean, Andrew F; McFarland, Robert; Vaz, Frédéric M; Delahodde, Agnès; Taylor, Robert W; Rötig, Agnès.
Afiliação
  • 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.
  • Marcorelles P; Bioinformatics Laboratory, Department of Epidemiology & Data Science, Amsterdam Public Health research institute, 1100 DE Amsterdam UMC, University of Amsterdam, the Netherlands.
  • Donkervoort S; Core Facility Metabolomics, Amsterdam UMC, 1105 Amsterdam, the Netherlands.
  • Saade D; Department of Pathology, EA4586 LIEN Université de Brest, CHRU Brest, 29609 Brest, France.
  • Bönnemann CG; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
  • Chao KR; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
  • Cai C; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
  • Iannaccone ST; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Dean AF; Departments of Pediatrics and Neurology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
  • McFarland R; Departments of Pediatrics and Neurology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
  • Vaz FM; Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK.
  • Delahodde A; Department of Histopathology, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK.
  • Taylor RW; Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK.
  • Rötig A; 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.
HGG Adv ; 3(2): 100097, 2022 Apr 14.
Article em En | MEDLINE | ID: mdl-35321494
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Revista: HGG Adv Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Revista: HGG Adv Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido