To assess this FAT1 lowering quantitatively, mRNA expression levels were then followed by qRT-PCR in muscle biopsies from 4 FSHD human foetuses carrying pathogenic 4qA alleles harbouring 1.5, 4.3, and 7 D4Z4 copies (referred to as F1, to F4, respectively; Figure S14A). Here, FAT1 is linked to Facioscapulohumeral dystrophy.