2023
DOI: 10.1101/2023.11.23.23298813
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Assessing Facioscapulohumeral Muscular Dystrophy through Comparative Analysis of Bulk and Single-Cell Transcriptomes

Saed Sayad,
Mark Hiatt,
Hazem Mustafa

Abstract: BackgroundFacioscapulohumeral 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 the specific type of FSHD and guiding treatment and management.MethodWe acquired bulk and single-cell gene ex… Show more

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