1. Department of Cell Biology, Harvard Medical School, Boston, United States
2. Inserm U1016, Institut Cochin, CNRS UMR 8104, Paris, France
3. Department of Biochemistry, APHP, GHU Pitié-Salpêtrière, Paris, France
4. Université Paris-Descartes, Paris, France
5. UMR1141, PROTECT, INSERM, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France
6. Neuromuscular morphology unit, Institut de Myologie, GHU Pitié-Salpêtrière, APHP, Paris, France
7. Department of Biochemistry, Hôpital Robert Debré, APHP, Paris, France
8. Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, United States
9. University of Pittsburgh, Pittsburgh, United States
10. Children's Hospital of Pittsburgh of UPMC, Pittsburgh, United States
11. Department of Biochemistry, Hôpital Bicêtre, APHP, Paris, France
12. Department of Radiology, Hôpital Robert Debré, APHP, Paris, France
13. Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France