A gene is an instruction to assemble a protein, which is a structure essential for the formation and proper functioning of our body. MYOD1 encodes for a protein that plays a role in muscle development. In MYOD1-related disorders, a change in both copies of MYOD1 gene results in a protein that is not correctly formed or in a decreased production of the protein.
The diagnostic of MYOD1-related disorder relies on genetic testing, which is usually performed on a blood sample.
MYOD1