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Title:

WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.

Document type:
Article; Journal Article
Author(s):
Skorvanek, Matej; Rektorova, Irena; Mandemakers, Wim; Wagner, Matias; Steinfeld, Robert; Orec, Laura; Han, Vladimir; Pavelekova, Petra; Lackova, Alexandra; Kulcsarova, Kristina; Ostrozovicova, Miriam; Gdovinova, Zuzana; Plecko, Barbara; Brunet, Theresa; Berutti, Riccardo; Kuipers, Demy J S; Boumeester, Valerie; Havrankova, Petra; Tijssen, M A J; Kaiyrzhanov, Rauan; Rizig, Mie; Houlden, Henry; Winkelmann, Juliane; Bonifati, Vincenzo; Zech, Michael; Jech, Robert
Abstract:
INTRODUCTION: Sixteen subjects with biallelic WARS2 variants encoding the tryptophanyl mitochondrial aminoacyl-tRNA synthetase, presenting with a neonatal- or infantile-onset mitochondrial disease, have been reported to date. Here we present six novel cases with WARS2-related diseases and expand the spectrum to later onset phenotypes including dopa-responsive early-onset parkinsonism and progressive myoclonus-ataxia. METHODS: Six individuals from four families underwent whole-exome sequencing wi...     »
Journal title abbreviation:
Parkinsonism Relat Disord
Year:
2022
Journal volume:
94
Pages contribution:
54-61
Fulltext / DOI:
doi:10.1016/j.parkreldis.2021.11.030
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/34890876
Print-ISSN:
1353-8020
TUM Institution:
Institut für Humangenetik; Lehrstuhl für Neurogenetik (N.N.)
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