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Several muscle diseases 4 : Skeletal Muscle FSHD
Skeletal Muscle FSHD (Facioscapulohumeral Muscular Dystrophy): Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder characterized by progressive muscle weakness and atrophy, predominantly affecting the muscles of the face, shoulders, and upper arms. FSHD is associated with a contraction of the D4Z4 repeat sequence on chromosome 4, leading to decreased repression of the DUX4 gene. Abnormal expression of the DUX4 gene is thought to contribute to muscle degeneration in FSHD. This …
