Publications by authors named "Guillaume Madinier"
Article Synopsis
- Recent findings indicate that biallelic WARS2 pathogenic variants lead to a partial aminoacylation defect, linked to late-onset conditions like dopa-responsive dystonia parkinsonism and myoclonus ataxia.
- * The case study describes a 39-year-old male with a history of childhood-onset progressive dystonia, psychiatric symptoms, and ataxia, where genome sequencing revealed specific variants that confirmed a WARS2-related disease diagnosis.
- * The identified missense variant (p.(Trp13Gly)) is associated with milder symptoms compared to severe loss-of-function variants, reinforcing the relationship between genotype and phenotype in these disorders.
