Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

• Valérie Biancalana,
• Norma B. Romero,
• Inger Johanne Thuestad,
• Jaakko Ignatius,
• Janne Kataja,
• Maria Gardberg,
• Delphine Héron,
• Edoardo Malfatti,
• Anders Oldfors,
• Jocelyn Laporte

Affiliations

Valérie Biancalana

Laboratoire Diagnostic Génétique, Faculté de Médecine, CHRU, Nouvel Hôpital Civil

Norma B. Romero

Center for Research in Myology, GH Pitie-Salpêtrière, Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617

Inger Johanne Thuestad

Department of Pediatrics, Skane University Hospital

Jaakko Ignatius

Department of Clinical Genetics, Turku University Hospital

Janne Kataja

Department of Paediatrics and Adolescent Medicine, Turku University Hospital

Maria Gardberg

Department of Pathology, Turku University Hospital and Institute of Biomedicine, Turku University

Delphine Héron

Service de Génétique clinique et Médicale, CHU Paris-GH La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris

Edoardo Malfatti

Neuromuscular Morphology Unit, Myology Institut, GH La Pitié-Salpêtrière

Anders Oldfors

Department of Pathology, and Genetics, University of Gothenburg, Sahlgrenska University Hospital

Jocelyn Laporte

Institut de Génétique et de Biologie Moléculaire et Cellulaire, IGBMC