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Published in 2022 at "Neurology"
DOI: 10.1212/wnl.0000000000201015
Abstract: Spinocerebellar ataxia 21 due to TMEM240 disease-associated variation characteristically presents insidiously with a delay in language, motor, and social skill acquisition. The condition typically progresses to severe cognitive impairment. We report a patient with SCA21…
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Keywords:
dystonia syndrome;
tmem240 variation;
variation;
due tmem240 ... See more keywords