New mutations identified in a case of Glycogenin-1 deficiency.

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

Pruvost R; 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.
Csanyi M; Department of Pathology, Lille Universitary Hospital Center, Lille, France.
Lefebvre G; 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.
Biancalana V; Laboratory of Diagnostic Genetics, Faculty of Medicine, University of Strasbourg, France.
Malfatti E; Biology of the Neuromuscular System, University Paris-Est Créteil, INSERM, U955 IMRB, F-94010 Créteil, France.
Cassim F; 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.
Oldfors C; Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden.
Defebvre L; 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.
Oldfors A; Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden.
Tard C; 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.

Mol Genet Metab Rep ; 38: 101046, 2024 Mar.

Article en En | MEDLINE | ID: mdl-38234863

Texto completo: 1 Banco de datos: MEDLINE Idioma: En Año: 2024 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Idioma: En Año: 2024 Tipo del documento: Article