Article

Biallelic<i>PAX7</i>variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy

2025-03-05

Abstract excerpt

Inherited myopathies are genetic disorders characterised by declining motor function due to progressive muscle weakening and wasting. Recently, pathogenic variants in PAX7 , the master transcriptional regulator of muscle stem cells, have been associated with myopathies of variable severity, arguing for impaired satellite cell function as the main pathogenic driver. Here, we report the characterisation of two misse...

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Literature Corpus work: 82b37d24-b416-5292-b204-2d0b23bba7a9
DOI: 10.1101/2025.03.03.25322917

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