Phenotypic Heterogeneity among GBA p.R202X Carriers in Lewy Body Spectrum Disorders
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DOI: 10.3390/biomedicines10010160
Abstract: We describe the clinical and neuropathologic features of patients with Lewy body spectrum disorder (LBSD) carrying a nonsense variant, c.604C>T; p.R202X, in the glucocerebrosidase 1 (GBA) gene. While this GBA variant is causative for Gaucher’s… read more here.
Keywords: lewy body; body spectrum; r202x; gba r202x ... See more keywords