New mutations identified in a case of Glycogenin-1 deficiency

Mol Genet Metab Rep. 2024 Jan 3:38:101046. doi: 10.1016/j.ymgmr.2023.101046. eCollection 2024 Mar.

¹ Department of Movement Disorder and NS-PARK/centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, Inserm 1172 University of Lille, Lille, France.
² Department of Pathology, Lille Universitary Hospital Center, Lille, France.
³ Musculoskeletal Imaging Department, Centre de Consultation et d'Imagerie de l'Appareil Locomoteur, CHU Lille, University of Lille Nord de France, F-59000, Lille, France.
⁴ Laboratory of Diagnostic Genetics, Faculty of Medicine, University of Strasbourg, France.
⁵ Biology of the Neuromuscular System, University Paris-Est Créteil, INSERM, U955 IMRB, F-94010 Créteil, France.
⁶ Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden.

No abstract available