This website provides information on patients with mutations in the Paired Box Gene 7 (PAX7) gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the PAX7 gene are multisystem disorders. Progressive congenital myopathy with scoliosis (MYOSCO) is characterized by hypotonia, ptosis, muscular atrophy, scoliosis, and dysmorphic facial features.
A chromosomal translocation resulting in the fusion of PAX7 to FOX01 is associated with Rhabdomyosarcoma 2 (RMS2) which is characterized by alveolar rhabdomyosarcoma.
Not all individuals with a mutation in the PAX7 gene have these features.
This website was created to share and collect information about clinical, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the PAX7 gene. This website was created to collect information on MYOSCO and not RMS2.
Philippe Campeau, MD, CHU Sainte-Justine Research Center, University of Montreal, Montreal, Canada, email@example.com
Coralie Michaud, MD, University of Montreal, Montreal, Canada, firstname.lastname@example.org