RecessiveMYPNmutations cause cap myopathy with occasional nemaline rods

Author:

Lornage Xavière1234,Malfatti Edoardo567,Chéraud Chrystel1234,Schneider Raphaël12348,Biancalana Valérie12349,Cuisset Jean-Marie10,Garibaldi Matteo61112,Eymard Bruno57,Fardeau Michel567,Boland Anne13,Deleuze Jean-François13,Thompson Julie8,Carlier Robert-Yves1415,Böhm Johann1234,Romero Norma B.567,Laporte Jocelyn1234

Affiliation:

1. Institute of Genetics and Molecular and Cellular Biology; Illkirch France

2. National Institute of Health and Medical Research; Illkirch France

3. National Center for Scientific Research; Illkirch France

4. Strasbourg Federation of Translational Medicine; University of Strasbourg; Illkirch France

5. Sorbonne Universities, Pierre and Marie Curie University, National Institute of Health and Medical Research, National Center for Scientific Research, Center for Research in Myology, Pitié-Salpêtrière Hospital; Paris France

6. Unit of Neuromuscular Morphology, Institute of Myology, Pitié-Salpêtrière Hospital; Paris France

7. Reference Center for Neuromuscular Pathology Paris-East, Institute of Myology, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris; Paris France

8. Department of Computer Science, ICube; National Center for Scientific Research; Strasbourg France

9. Diagnostic Genetic Laboratory, New Civil Hospital; Regional University Hospital Center; Strasbourg France

10. Department of Neuropediatrics, Reference Center for Neuromuscular Diseases, Roger-Salengro Hospital; Regional University Hospital Center; Lille France

11. Unit of Neuromuscular Diseases, Department of Neurology, Mental Health, and Sensory Organs, Faculty of Medicine and Psychology; Sapienza University of Rome; Rome Italy

12. Neuromuscular Diseases Centre, Department of Clinical Neurosciences; University Hospital of Nice; Nice France

13. National Genotyping Center, Genomics Institute, Office of Atomic Energy and Alternative Energies; Evry France

14. Department of Radiology, Neurolocomotor Division, Raymond Poincaré Hospital; University Hospitals Paris-Ile-de-France West, Public Hospital Network of Paris; Garches France

15. Versailles Saint-Quentin-en-Yvelines University; Versailles France

Funder

Institut National de la Santé et de la Recherche Médicale

Centre National de la Recherche Scientifique

Université de Strasbourg

France Genomics

Rare Diseases Foundation

French Association against Myopathies

Foundation for Medical Research

Public Hospital Network of Paris

French Society of Neurology

Association Institute of Myology

Publisher

Wiley

Subject

Neurology (clinical),Neurology

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