NOTCH2NLC GGC Repeat Expansion Presenting as Adult-Onset Cervical Dystonia.

Movement disorders clinical practice(2023)

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摘要
FIGURE S1. Skin biopsy. P62 immunohistochemistry staining demonstrating dense, dot-like brown-colored inclusions in the nuclei of fibroblasts and cells of appendage (arrow-heads) (A). Electron microscopy shows intranuclear non-membrane bound inclusions (arrows) in the nucleus of an appendage cell (B) and a fibroblast (C). 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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repeat expansion presenting
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