Article
Phenotypic and molecular analyses of X-linked dystonia-parkinsonism ("lubag") in women.
Archives of neurology - 1 Dec 2004
Evidente Virgilio Gerald H, Nolte Dagmar, Niemann Stephan, Advincula Joel, Mayo Mezzanie C, Natividad Filipinas F, Müller Ulrich
Abstract excerpt
BACKGROUND: X-linked dystonia-parkinsonism (XDP) or "lubag" is an X-linked recessive disorder that afflicts Filipino men, and rarely, women. Genetic confirmation is performed through haplotyping or detection of disease-specific changes in the DYT3 gene. OBJECTIVE: To describe the phenotypes and molecular data of 8 symptomatic female patients with XDP from 5 kindreds. METHODS: Case series. RESULTS: The average age...
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