A Recurrent EIF2AK2 Missense Variant Causes Autosomal-Dominant Isolated Dystonia
Ann Neurol
.
2021 Jun;89(6):1257-1258.
doi: 10.1002/ana.26081.
Epub 2021 May 4.
Authors
Thomas Musacchio
#
1
,
Michael Zech
#
2
3
,
Martin M Reich
1
,
Juliane Winkelmann
#
2
3
4
5
,
Jens Volkmann
#
1
Affiliations
1
Department of Neurology, University Hospital Würzburg, Würzburg, Germany.
2
Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
3
Institute of Human Genetics, Technical University of Munich, Munich, Germany.
4
Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany.
5
Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.
#
Contributed equally.
PMID:
33866603
DOI:
10.1002/ana.26081
No abstract available
Publication types
Letter
Comment
MeSH terms
Dystonia* / genetics
Dystonic Disorders* / genetics
Humans
Mutation, Missense / genetics
eIF-2 Kinase / genetics
Substances
EIF2AK2 protein, human
eIF-2 Kinase