Associated Papers
Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy.
Ganassi M et al.
Cell Death & Disease, 2026
Distinct whole-body muscle MRI imaging patterns in PAX7-congenital myopathy: A case report.
Haliloğlu G et al.
Journal of Neuromuscular Diseases, 2024
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.
Feichtinger RG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
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