Article
Danon disease in male patients: a prospective natural history study to augment understanding of the phenotype.
Orphanet journal of rare diseases - 21 Oct 2025
Khedro Tarek, Attias Jennifer, Eshraghian Emily, Tsotras Melina, Margolin Emily, Yassin Shaden, Silver Elizabeth, Bui Quan, Borooah Shyamanga, Laverty Chamindra G, Taylor Matthew R G, Adler Eric D, Hong Kimberly N
Abstract excerpt
BACKGROUND: Danon disease (DD) is a rare X-linked cardioskeletal myopathy caused by pathogenic mutations in lysosomal-associated membrane protein-2 (LAMP2). It is a multisystemic disease that affects the heart, skeletal, neurologic and ophthalmic systems. With an early age of onset especially in males and no treatment for the cardiomyopathy outside of heart transplant, natural history studies have been paramount...
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