A Homozygous Missense Variant in PPP1R1B/DARPP-32 Is Associated With Generalized Complex Dystonia.
Fiche publication
Date publication
novembre 2021
Journal
Movement disorders : official journal of the Movement Disorder Society
Auteurs
Membres identifiés du Cancéropôle Est :
Pr BAHRAM Siamak, Dr CARAPITO Raphaël, Dr LHERMITTE Benoît
Tous les auteurs :
Khan A, Molitor A, Mayeur S, Zhang G, Rinaldi B, Lannes B, Lhermitte B, Umair M, Arold ST, Friant S, Rastegar S, Anheim M, Bahram S, Carapito R
Lien Pubmed
Résumé
The dystonias are a heterogeneous group of hyperkinetic disorders characterized by sustained or intermittent muscle contractions that cause abnormal movements and/or postures. Although more than 200 causal genes are known, many cases of primary dystonia have no clear genetic cause.
Mots clés
autosomal recessive generalized dystonia; exome sequencing; PPP1R1B; DARPP-32
Référence
Mov Disord. 2021 Nov 24;: