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Autor:
Sherin Hashem, Kirk H. Hammond, Emily Gault, Kirk L. Peterson, Angel Soto-Hermida, Annahita Keravala, Nancy D. Dalton, Ana Maria Manso, Julius Bogomolovas, Paul Saftig, Yusu Gu, Elizza Villarruel, Gaurav D. Shah, Bradley C. Nelson, Pavan K. Battiprolu, Eric Adler, Jonathan D. Schwartz, Chao Chen, Paul J. Bushway, Michela Brambatti
Publikováno v:
Science translational medicine. 12(535)
Danon disease (DD) is a rare X-linked autophagic vacuolar myopathy associated with multiorgan dysfunction, including the heart, skeletal muscle, and liver. There are no specific treatments, and most male patients die from advanced heart failure durin