Variants in PAX7 cause progressive congenital myopathy with scoliosis (MYOSCO) which is characterized by hypotonia (floppiness), ptosis (upper lid droops), muscular atrophy (decrease in and wasting of muscle tissue), scoliosis (sideways curvature of the spine), and dysmorphic facial features (abnormal differences in face structure). Five individuals have been reported in literature.
PAX7