Molecular characteristics

A gene is an instruction to assemble a protein, which is a structure essential for the formation and proper functioning of our body. PAX7 encodes for a protein that plays a role in muscle development. In PAX7-related disorders, a change in both copy of PAX7 gene results in a protein that is not correctly formed or in a decreased production of the protein.

The diagnostic of PAX7-related disorder relies on genetic testing, which is usually performed on a blood sample.