Article

Assessing Facioscapulohumeral Muscular Dystrophy through Comparative Analysis of Bulk and Single-Cell Transcriptomes

2023-11-24

Abstract excerpt

<h4>Background</h4> Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder characterized by progressive weakening of the muscles. While the two types of FSHD (FSHD1 and FSHD2) have distinct genetic causes, they share similarities in their clinical presentations. Both result in muscle weakness, particularly in the face, shoulders, and upper arms. Genetic testing is essential for accurately diagnosing t...

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Literature Corpus work: f2c0874e-0864-5ca5-84a0-379bb1b7a21d
DOI: 10.1101/2023.11.23.23298813

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