Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations

Molecular Genetics and Metabolism - Tập 133 - Trang 222-229 - 2021
Charles-Joris Roux1, Giulia Barcia2, Manuel Schiff3,4, Marie Sissler5, Raphaël Levy1, Volodia Dangouloff-Ros1, Isabelle Desguerre6, Shimon Edvardson7, Orli Elpeleg7, Agnès Rötig3, Arnold Munnich2,3, Nathalie Boddaert1,3
1Department of Paediatric Radiology, Hôpital Necker–Enfants Malades, Paris, France
2Department of Genetics, Hospital Necker–Enfants Malades, Paris, France
3Institut Imagine, INSERM UMR 1163, Paris, France
4Necker Hospital, APHP, Reference Center for Inborn Error of Metabolism, Pediatrics Department, University of Paris, Paris, France
5Institut Européen de Chimie et Biologie, INSERM U1212, CNRS UMR 5320, University of Bordeaux, Pessac, France
6Department of Neurology and Metabolism, Hôpital Necker–Enfants Malades, Paris, France
7Department of Genetics, Hadassah University Hospital, Jerusalem, Israel

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Molecular Genetics and Metabolism

Tập 133

222-229

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