FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome
Milan Zimmermann, Stefanie Schuster, Sylvia Boesch, Georg-Christoph Korenke, Julia Mohr, Jennifer Reichbauer, Christoph Kernstock, Dieter Kotzot, Veronika Spahlinger, Rebecca Schüle, Lüdger Schöls
Topics & Concepts
ParkinsonismBiologyCompound heterozygosityPhenotypeAtaxiaPathologyGeneticsDiseaseNeuroscienceGeneMedicineHereditary Neurological DisordersNuclear Structure and FunctionGenomics and Rare Diseases