A new glycogen storage disease caused by a dominant PYGM mutation.
Fiche publication
Date publication
mai 2020
Journal
Annals of neurology
Auteurs
Membres identifiés du Cancéropôle Est :
Dr BIRCK Catherine
Tous les auteurs :
Echaniz-Laguna A, Lornage X, Laforêt P, Orngreen MC, Edelweiss E, Brochier G, Bui MT, Silva-Rojas R, Birck C, Lannes B, Romero NB, Vissing J, Laporte J, Böhm J
Lien Pubmed
Résumé
Glycogen storage diseases (GSD) are severe human disorders resulting from abnormal glucose metabolism, and all previously described GSDs segregate as autosomal recessive or X-linked traits. Here we aimed to molecularly characterize the first family with a dominant GSD.
Référence
Ann. Neurol.. 2020 May 9;: