What does the gene do and how do changes cause disease?
The SPEGgene tells the body how to make a protein that is important for building and maintaining muscle and heart cells. Some changes in SPEGstop the protein from working (these are called truncating or loss-of-function changes) and are often linked to more severe muscle and heart disease. Other types of changes (called missense) may have more variable effects. Doctors may test the SPEGgene by panels, exome, or genome sequencing.
SPEG