title: Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia.
authors.affiliation: Aix Marseille Université, INSERM, GMGF UMR_S 910, Marseille, France.
authors.forename: Morgane
authors.initials: M
authors.lastname: Miltgen
authors.affiliation: Aix Marseille Université, INSERM, GMGF UMR_S 910, Marseille, France.
authors.forename: Arnaud
authors.initials: A
authors.lastname: Blanchard
authors.affiliation: Aix Marseille Université, INSERM, GMGF UMR_S 910, Marseille, France.
authors.forename: Hélène
authors.initials: H
authors.lastname: Mathieu
authors.affiliation: Université de Lille, CHRU de Lille, Service de Neurologie et Pathologie du Mouvement, Lille, France.|INSERM UMR-S1172, Lille, France.
authors.forename: Alexandre
authors.initials: A
authors.lastname: Kreisler
authors.affiliation: Aix Marseille Université, INSERM, GMGF UMR_S 910, Marseille, France.
authors.lastname: Jean-Pierre-Desvignes
authors.affiliation: Aix Marseille Université, INSERM, GMGF UMR_S 910, Marseille, France.
authors.forename: David
authors.initials: D
authors.lastname: Salgado
authors.affiliation: CHRU Montpellier, Service de Neuro-pédiatrie, Hôpital Gui de Chauliac, Montpellier, France; Institut des Neurosciences de Montpellier, U1051 de l'INSERM, Université de Montpellier, BP 74103, Montpellier, France.
authors.forename: Agathe
authors.initials: A
authors.lastname: Roubertie
authors.affiliation: Aix Marseille Université, INSERM, GMGF UMR_S 910, Marseille, France.
authors.forename: Laura
authors.initials: L
authors.lastname: Barre
authors.affiliation: Aix Marseille Université, INSERM, GMGF UMR_S 910, Marseille, France.
authors.forename: Ghadi
authors.initials: G
authors.lastname: Rai
authors.affiliation: Département de Génétique Médicale, Hôpital La Timone, Marseille, France.
authors.forename: Veronique
authors.initials: V
authors.lastname: Blanck
authors.affiliation: Aix Marseille Université, INSERM, GMGF UMR_S 910, Marseille, France.
authors.forename: Melissa
authors.initials: M
authors.lastname: Frederic
authors.affiliation: Université de Lille, CHRU de Lille, Service de Neurologie et Pathologie du Mouvement, Lille, France.
authors.forename: Xavier
authors.initials: X
authors.lastname: Douay
authors.affiliation: Université de Lille, CHRU de Lille, Service de Neurologie et Pathologie du Mouvement, Lille, France.
authors.forename: Ronald
authors.initials: R
authors.lastname: Mazzolenni
authors.affiliation: Service de Neurologie, CH Béthune, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Charpentier
authors.affiliation: CHU Montpellier, Hôpital Gui de Chauliac, Service de Neurochirurgie, Montpellier, France.
authors.forename: Victoria
authors.initials: V
authors.lastname: Gonzalez
authors.affiliation: Université de Lille, CHRU de Lille, Service de Neurologie et Pathologie du Mouvement, Lille, France.|INSERM UMR-S1172, Lille, France.
authors.forename: Alain
authors.initials: A
authors.lastname: Destée
authors.affiliation: Aix Marseille Université, INSERM, GMGF UMR_S 910, Marseille, France.|Département de Génétique Médicale, Hôpital La Timone, Marseille, France.
authors.forename: Christophe
authors.initials: C
authors.lastname: Béroud
authors.affiliation: Aix Marseille Université, INSERM, GMGF UMR_S 910, Marseille, France.
authors.forename: Gwenaelle
authors.identifier: 0000-0003-4098-6161
authors.initials: G
authors.lastname: Collod-Béroud
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000075368:Anoctamins / Q000235:genetics*; D001764:Blepharospasm / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D014103:Torticollis / Q000235:genetics*; D014202:Tremor / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: C577591:ANO3 protein, human; D000075368:Anoctamins