Lower Facial Dystonia: an Unexpected Presentation Associated with Pathogenic RFC1 Repeat Expansions
Movement disorders clinical practice(2023)
摘要
Text S1. Molecular analysis. Figure S2. Brain MRI: Mild cerebellar atrophy primarily affecting the vermis is visible on (A) sagittal and (B) coronal images. Table S3. Phenotypic spectrum of RFC1- related disease. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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关键词
lower facial dystonia,phenotypic expansion,CANVAS,RFC1-related disease
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