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Update by Dr. Kathryn Wagner.
This is a proposal to study the histopathological features of muscle in a large biobank from FSHD patients and their first degree family members. By establishing a detailed morphometric signature of FSHD, we will be able to develop muscle pathology as an outcome measure in future clinical trials. In our cohort of 75 biopsies, we are identifying significant differences between the histopathological features in FSHD vs. Control biopsies. Our future analysis will be aimed at trying to better understand different factors influencing these differences: age, gender, genetic testing results, and muscle function. Further, by correlating specific features such as degeneration and inflammation with DUX4 expression, we will be able to determine whether DUX4 has a primary or secondary effect on muscle pathology.