GNAO1 Haploinsufficiency Associated with a Mild Delayed-Onset Dystonia Phenotype

Mov Disord. 2022 Dec;37(12):2464-2466. doi: 10.1002/mds.29258. Epub 2022 Oct 23.

Authors

Martin Krenn^{1

2}, Rudolf Sommer³, Thomas Sycha^{1

2}, Michael Zech^{4

5}

Affiliations

¹ Department of Neurology, Medical University of Vienna, Vienna, Austria.
² Comprehensive Center for Clinical Neurosciences and Mental Health, Medical University of Vienna, Vienna, Austria.
³ Department of Neurology, Krankenhaus der Barmherzigen Brüder, Linz, Austria.
⁴ Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.
⁵ Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.

PMID: 36273395
DOI: 10.1002/mds.29258

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't
Comment

MeSH terms

Dystonia* / genetics
GTP-Binding Protein alpha Subunits, Gi-Go / genetics
Haploinsufficiency / genetics
Humans
Movement Disorders* / genetics
Phenotype

Substances

GNAO1 protein, human
GTP-Binding Protein alpha Subunits, Gi-Go