Danon Disease
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 ...
متن کاملAutophagy 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...
متن کاملDanon disease: clinical features, evaluation, and management.
Danon disease is an X-linked dominant skeletal and cardiac muscle disorder with multisystem clinical manifestations. It was first described in boys presenting with cardiomyopathy, skeletal myopathy, and varying degrees of intellectual disability.1 As histological findings of glycogen buildup in muscle tissue similar to those seen in Pompe disease were noted, the condition was originally conside...
متن کاملLAMP2 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...
متن کاملMultisystemic LAMP-2 defect in Danon disease
Danon disease is an X-linked dominant disorder due to mutations in the LAMP2 gene, presenting with hypertrophic cardiomyopathy, skeletal myopathy and mental retardation. To investigate the effects of LAMP2 gene mutations on protein expression in different tissues, we screened LAMP2 gene mutations and LAMP-2 protein deficiency in the skeletal muscle of 9 unrelated patients with hypertrophic card...
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ژورنال
عنوان ژورنال: Circulation: Heart Failure
سال: 2014
ISSN: 1941-3289,1941-3297
DOI: 10.1161/circheartfailure.114.001105