ArticleNeurology. Genetics2022
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation.
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Article in Neurology. Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7citing papers in PubMed
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7 citing papers in PubMed, 14 citations in OpenAlex.
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Authors and funding
19 authors at 1 institution in 1 country.
Sebastian MontealegreInserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France.
Elise LebigotInserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France.
Hugo DebrugeInserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France.
Norma RomeroInserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France.
Bénédicte HéronInserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France.
Pauline GaignardInserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France.
Antoine LegendreInserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France.
Apolline ImbardInserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France.
Stéphanie GobinInserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France.
Emmanuelle LacèneInserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France.
Patrick NusbaumInserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France.
Arnaud HubasInserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France.
Isabelle DesguerreInserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France.
Aude ServaisInserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France.
Pascal LaforêtInserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France.
Peter van EndertInserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France.
François Jérome AuthierInserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France.
Cyril GitiauxInserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France.
Pascale de LonlayInserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France.
Inserm · FR
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectivesTo determine common clinical and biological traits in 2 individuals with variants in
methodsWe performed a clinical characterization of 2 distinct individuals with biallelic
resultsThe individual with DISCUSSION: We conclude that
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390
Registered trials
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.