Article
Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome.
Parkinsonism & related disorders - 1 Nov 2020
Vanegas Maria I, Marcé-Grau Anna, Martí-Sánchez Laura, Mellid Sara, Baide-Mairena Heidy, Correa-Vela Marta, Cazurro Anna, Rodríguez Carla, Toledo Laura, Fernández-Ramos Joaquín Alejandro, Pons Roser, Aguilera-Albesa Sergio, Martí Maria José, Eiris Jesús, Iglesias Gema, De Fabregues Oriol, Maqueda Elena, Garriz-Luis Maite, Madruga Marcos, Espinós Carmen, Macaya Alfons, Cabrera José Carlos, Pérez-Dueñas Belén
Abstract excerpt
OBJECTIVE: To perform phenotype and genotype characterization in myoclonus-dystonia patients and to validate clinical rating tools. METHOD: Two movement disorders experts rated patients with the Burke-Fahn-Marsden and Unified-Myoclonus rating scales using a video-recording protocol. Clinimetric analysis was performed. SGCE mutations were screened by Sanger sequencing and multiplex ligation-dependent probe...
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