New mutations identified in a case of Glycogenin-1 deficiency

• R. Pruvost,
• M. Csanyi,
• G. Lefebvre,
• V. Biancalana,
• E. Malfatti,
• F. Cassim,
• C. Oldfors,
• L. Defebvre,
• A. Oldfors,
• C. Tard

Affiliations

R. Pruvost

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; Corresponding author.

M. Csanyi

Department of Pathology, Lille Universitary Hospital Center, Lille, France

G. Lefebvre

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

V. Biancalana

Laboratory of Diagnostic Genetics, Faculty of Medicine, University of Strasbourg, France

E. Malfatti

Biology of the Neuromuscular System, University Paris-Est Créteil, INSERM, U955 IMRB, F-94010 Créteil, France

F. Cassim

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

C. Oldfors

Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden

L. Defebvre

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

A. Oldfors

Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden

C. Tard

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