Molecular characteristics

PAX7 encodes a transcription factor regulating satellite cells in muscles. It is essential for skeletal muscle growth and regeneration.

In MYOSCO, biallelic variants in PAX7 causing a lack or reduction of PAX7. Expression is associated with satellite cell pool exhaustion. Nonsense, splice site and missense PAX7 variants have been found in individuals affected. MYOSCO is of autosomal recessive inheritance.