Fig. 4.

The clinical course and GBE1 protein expression in the liver explant.

A) Liver explant of the proband showed extensive parenchymal fibrosis and cirrhosis. Higher magnification images from the black square and the dotted square show fibro-nodular parenchyma. Western blot analysis shows that GBE1 protein expression is decreased in the proband's explanted liver tissue. Beta-actin is used as a loading control. B) Progression of cardiomyopathy and heart failure after the liver transplant was shown by the increased thickness of a left ventricular posterior wall (LVPW) and decreased Ejection Fraction (EF%) measured by transthoracic echocardiogram.