Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia
- Resource Type
- Authors
- Gwenaëlle Collod-Béroud; Arnaud Blanchard; Morgane Miltgen; Mélissa Yana Frédéric; Christophe Béroud; Laura Barre; Pierre Charpentier; Ronald Mazzolenni; Alain Destée; Alexandre Kreisler; Victoria Gonzalez; Hélène Mathieu; Ghadi Rai; David Salgado; Jean-Pierre-Desvignes; Agathe Roubertie; Veronique Blanck; Xavier Douay
- Source
- Movement Disorders
Movement Disorders, 2016, 31 (8), pp.1251-1252. ⟨10.1002/mds.26717⟩
Movement Disorders, Wiley, 2016, 31 (8), pp.1251-1252. ⟨10.1002/mds.26717⟩
- Subject
- Adult
Male
0301 basic medicine
Heterozygote
Anoctamins
Blepharospasm
[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics
[SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology
White People
03 medical and health sciences
0302 clinical medicine
Tremor
Humans
Medicine
[SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
Torticollis
ComputingMilieux_MISCELLANEOUS
Aged
Heterozygous mutation
Aged, 80 and over
Genetics
business.industry
Craniocervical dystonia
Heterozygote advantage
[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology
Middle Aged
medicine.disease
Pedigree
030104 developmental biology
Neurology
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Mutation
Mutation (genetic algorithm)
Female
[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
Neurology (clinical)
medicine.symptom
business
030217 neurology & neurosurgery
- Language
- English
- ISSN
- 0885-3185
1531-8257