The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant

Biallelic variants in the mitochondrial form of the tryptophanyl-tRNA synthetases (WARS2) can cause a neurodevelopmental disorder with movement disorders including early-onset tremor–parkinsonism syndrome. Here, we describe four new patients, who all presented at a young age with a tremor–parkinsoni...

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Detalles Bibliográficos
Autores principales: Pauly, Martje G., Korenke, G. Christoph, Diaw, Sokhna Haissatou, Grözinger, Anne, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, González, Victoria, Macaya, Alfons, Serrano Antón, Ana Teresa, Peterlin, Borut, Božović, Ivana Babić, Maver, Aleš, Münchau, Alexander, Lohmann, Katja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137540/
https://www.ncbi.nlm.nih.gov/pubmed/37107582
http://dx.doi.org/10.3390/genes14040822

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