LAMP2 Microdeletions in Patients With Danon Disease

LAMP2 microdeletions in patients with Danon disease.

BACKGROUND Danon disease is an X-linked dominant disorder characterized by the clinical triad of hypertrophic cardiomyopathy, skeletal myopathy, and variable mental retardation. Pathologically, autophagic vacuoles are noted in both skeletal and cardiac muscle. It exhibits an X-linked dominant mode of inheritance, and male carriers are severely affected, whereas female carriers develop milder an...

- 1 - LAMP 2 Microdeletions in Patients with Danon Disease

A phenocopy of sarcomeric hypertrophic cardiomyopathy: LAMP2 cardiomyopathy (Danon disease) from China.

Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease characterized by otherwise unexplained left ventricular (LV) hypertrophy, and caused by a multitude of mutations in genes encoding proteins of the cardiac sarcomere. 3 Notably, HCM is heterogeneous in terms of phenotypic expression, clinical presentation and course, as well as management strategies, i.e. with severe dise...

Retinopathy in Danon disease.

OBJECTIVE To evaluate visual function in 2 boys and their maternal aunt affected with Danon disease due to a mutation in the X-linked lysosome-associated membrane protein-2 (LAMP2) gene. METHODS Linkage analysis using microsatellite markers from the X chromosome was done in family members from the paternal side. Visual acuity testing, fundus analysis, fluorescence angiography, and full-field ...

Autophagy dysregulation in Danon disease

The autophagy-lysosome system is critical for muscle homeostasis and defects in lysosomal function result in a number of inherited muscle diseases, generally referred to as autophagic vacuolar myopathies (AVMs). Among them, Danon Disease (DD) and glycogen storage disease type II (GSDII) are due to primary lysosomal protein defects. DD is characterized by mutations in the lysosome-associated mem...