Compound Heterozygous WARS2 Variants Including a Hypomorphic Allele Cause a Milder Phenotype of Complex Dopa Responsive Dystonia: Case Report and Review of the Literature - Schneider, Vincent; Dupont, Gwendoline; Madinier, Guillaume; Ramond, Francis; Lesca, Gaetan; Thauvin-Robinet, Christel; Thomas, Quentin (Cerebellum (London, England), 2024)
Keywords: Adult; Age; Alleles; Aminoacylation; Ataxia; Basal ganglia; Benzodiazepines; Biomedical and Life Sciences; Biomedicine; Brief Report; Case reports; Central nervous system diseases; Children; Dystonia; Dystonic Disorders - drug therapy; Dystonic Disorders - genetics; Genetics; Genomes; Genotype & phenotype; Genotypes; Hospitals; Humans; Literature reviews; Male; Movement disorders; Myoclonus; Neurobiology; Neurology; Neurosciences; Phenotype; Phenotypes; Rare diseases; Transfer RNA; Tryptophan-tRNA Ligase - genetics; Whole genome sequencing; Dopa-responsive dystonia; Early-onset parkinsonism; Genotype-phenotype correlation; Mild phenotype; Hypomorphic allele; WARS2