Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy - Otero, Maria G.; Tiongson, Emmanuelle; Diaz, Frank; Haude, Katrina; Panzer, Karin; Collier, Ashley; Kim, Jaemin; Adams, David; Tifft, Cynthia J.; Cui, Hong; Millian Zamora, Francisca; Au, Margaret G.; et al. (Annals of clinical and translational neurology, 2019)
Keywords: Adolescent; Adult; Ataxia - genetics; Brief Communication; Brief Communications; Child; Dysarthria - genetics; Electron Transport Complex IV - genetics; Female; Hereditary Sensory and Autonomic Neuropathies - genetics; Humans; Male; Pedigree; Phenotype