article_metadata: Ugo Sorrentino Luigi M Romito Barbara Garavaglia Mario Fichera Isabel Colangelo Holger Prokisch Juliane Winkelmann Jan Necpal Robert Jech Michael Zech
article_metadata: 10.5334/tohm.858
article_metadata: Tremor Other Hyperkinet Mov (N Y)
article_metadata: 2024 Apr 10:14:16.
article_metadata: dystonia myoclonus pro170leu sca21 spinocerebellar ataxia tmem240
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/38617829/
article_metadata: Dystonia / diagnosis Dystonia / genetics Dystonic Disorders Myoclonus / diagnosis Myoclonus / genetics Spinocerebellar Degenerations
article_metadata: Dystonia / diagnosis Dystonia / genetics Dystonic Disorders Myoclonus / diagnosis Myoclonus / genetics Spinocerebellar Degenerations Review Case Reports Ataxia Humans Hyperkinesis Membrane Proteins Rare Diseases Syndrome TMEM240 protein, human Membrane Proteins Myoclonic dystonia Spinocerebellar ataxia 21
article_metadata: PMC11012930
article_metadata: 38617829
article_metadata: Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant
article_metadata: 2024