Genotype-Phenotype Relations for the Dystonia-Parkinsonism Genes GLB1, SLC6A3, SLC30A10, SLC39A14, and PLA2G6: MDSGene Systematic Review.
Rodriguez-Antiguedad J, Rajalingam R, Krüger C, Teixeira-Dos-Santos D, Sun C, Fernandez-Toledo E, Duarte A, Saffie-Awad P, Barrett MJ, Flanigan JL, Emamikhah M, Patel N, San Luciano M, Cooper C, Bahr N, Oguh O, Buhrmann A, Vater M, Fuchshofen R, Vulinovic F, Parreidt MI, Weissbach A, Lohmann K, Klein C, Marras C, Camargos S.
Rodriguez-Antiguedad J, et al.
Int J Mol Sci. 2025 Apr 25;26(9):4074. doi: 10.3390/ijms26094074.
Int J Mol Sci. 2025.
PMID: 40362326
Free PMC article.
This systematic review explores the genotype-phenotype correlations of GLB1, SLC6A3, SLC30A10, PLA2G6, and SLC39A14-recently classified as DYT SLC39A14 and historically linked to dystonia-parkinsonism. ...Awareness of these phenotypes is essential for early diagnosi …
This systematic review explores the genotype-phenotype correlations of GLB1, SLC6A3, SLC30A10, PLA2G6, and SLC39A14-recently classifi …