Same genetic defect causes Pompe disease in both humans and dogs

Pompe disease, a severe glycogen storage disease appearing in Lapphunds is caused by a genetic defect in acid α-glucosidase gene. The same genetic mutation also causes the equivalent disease in humans. Based on this finding, canine Pompe disease can now be diagnosed with a genetic test.

URL: http://feeds.sciencedaily.com/~r/sciencedaily/plants_animals/dogs/~3/lOikBE2QBEI/130217083909.htm