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Over 95pct of FSHD patients carry a genetic abnormality proposed to affect expression of the FRG1 gene.
During the study, the researchers examined the FRG1 gene in the frog and found the protein that it encodes for is highly expressed in blood vessels.
Additional experiments show that normal FRG1 protein expression is important for blood vessel growth and organization.
Previous work linked aberrant FRG1 expression to the skeletal muscle defects of FSHD, and this study shows that FRG1 expression similarly contributes to abnormal blood vessel growth in the retina
Thus, the FSHD mutation, by affecting expression of the FRG1 gene may contribute to both the skeletal muscle and visual deficits.
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