FAT1 and facioscapulohumeral muscular dystrophy: Reduction of FAT1 mRNA levels, albeit to a lesser extent (25% reduction; Figure 9B), and aberrant protein localisation (Figure S15C) were observed in the quadriceps of a second FSHD foetus harbouring 4.3 D4Z4 repeats (F2), from an independent family with previous FSHD history (Figure S14).