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Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice

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Science Translational Medicine  20 Mar 2019:
Vol. 11, Issue 484, eaav1866
DOI: 10.1126/scitranslmed.aav1866

Article Information

vol. 11 no. 484

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History: 
  • Received for publication August 22, 2018
  • Resubmitted November 14, 2018
  • Accepted for publication February 28, 2019

Author Information

  1. Valentina M. Lionello1,2,3,4,
  2. Anne-Sophie Nicot1,2,3,4,5,6,
  3. Maxime Sartori1,2,3,4,
  4. Christine Kretz1,2,3,4,
  5. Pascal Kessler1,2,3,4,
  6. Suzie Buono1,2,3,4,*,
  7. Sarah Djerroud1,2,3,4,
  8. Nadia Messaddeq1,2,3,4,
  9. Pascale Koebel1,2,3,4,
  10. Ivana Prokic1,2,3,4,
  11. Yann Hérault1,2,3,4,
  12. Norma B. Romero7,8,9,
  13. Jocelyn Laporte1,2,3,4,, and
  14. Belinda S. Cowling1,2,3,4,*,
  1. 1IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), 67404 Illkirch, France.
  2. 2INSERM U1258, 67404 Illkirch, France.
  3. 3CNRS UMR7104, 67404 Illkirch, France.
  4. 4Strasbourg University, 67404 Illkirch, France.
  5. 5Grenoble Institute des Neurosciences, Université Grenoble Alpes, 38706 Grenoble, France.
  6. 6INSERM U1216, 38706 Grenoble, France.
  7. 7Université Sorbonne, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, 47 Boulevard de l’hôpital, 75013 Paris, France.
  8. 8Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013 Paris, France.
  9. 9Neuromuscular Morphology Unit, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013 Paris, France.
  1. Corresponding author. Email: jocelyn{at}igbmc.fr
  • * Present address: Dynacure, 67400 Illkirch, France.

  • These authors contributed equally to this work.

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