article_metadata: António Costa Diogo Pereira Maria João Malaquias Ana Filipa Brandão Jorge Oliveira Marina Magalhães
article_metadata: 10.3390/ijms26020809
article_metadata: Int J Mol Sci
article_metadata: 2025 Jan 19;26(2):809.
article_metadata: chromosome inactivation chromosomopathy generalized dystonia
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39859523/
article_metadata: Chromosome Duplication / genetics Chromosomes, Human, X / genetics Pedigree
article_metadata: Chromosome Duplication / genetics Chromosomes, Human, X / genetics Pedigree Case Reports Adult Dystonia / genetics Dystonic Disorders / congenital Dystonic Disorders / genetics Female Humans Male Middle Aged Phenotype
article_metadata: PMC11765987
article_metadata: 39859523
article_metadata: A Novel Large Duplication on the X Chromosome as a Cause of Familial Generalized Dystonia: A Case Report
article_metadata: 2025