Danon disease presenting as severe myocardial hypertrophy
نویسندگان
چکیده
منابع مشابه
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 ...
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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...
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ژورنال
عنوان ژورنال: European Heart Journal
سال: 2011
ISSN: 0195-668X,1522-9645
DOI: 10.1093/eurheartj/ehr086