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Acta Neuropathologica Communications
(Sep 2018)
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
DOI
https://doi.org/10.1186/s40478-018-0593-2
Journal volume & issue
Vol. 6, no. 1
pp. 1 – 3
Abstract
Read online
No abstracts available.
Keywords
DNM2
MTM1
Congenital myopathy
Centronuclear myopathy
Hypotonia
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