Pearls & Oy-sters: SCA21 Due to TMEM240 Variation Presenting as Myoclonus Dystonia Syndrome
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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… read more here.
Keywords: dystonia syndrome; tmem240 variation; variation; due tmem240 ... See more keywords