In humans, loss‐of‐function PAX7 mutations lead to the congenital muscular dystrophy MYOSCO (OMIM: 618578) with similarities to some cases of early onset FSHD including hypotonia, muscular atrophy, decreased respiratory function and spinal deformities (Mah & Chen, 2018; Feichtinger et al, 2019; Goselink et al, 2019a; Marg et al, 2019). Here, PAX7 is linked to facioscapulohumeral muscular dystrophy.