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Molecular pathogenesis of facioscapulohumeral muscular dystrophy with DUX4 at its center

(Contributed by Dr. Leo Wang.)

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Associated Disorders

  • Coats disease
  • Emery-Dreifuss muscular dystrophy
  • Facioscapulohumeral muscular dystrophy with inflammatory lesions in muscle
  • High-frequency hearing loss
  • Mitochondrial myopathy
  • Neurogenic facioscapulohumeral muscular dystrophy spinal muscular atrophy
  • Retinopathy
  • Scapuloperoneal muscular dystrophy
  • Scapuloperoneal syndrome