Early onset of cardiomyopathy and visual disorder in a boy with Danon disease associated with a de novo mutation of the LAMP2 gene
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Abstract: Danon disease is an X-linked dominant cardioskeletal myopathy due to mutations in the lysosome-associated membrane protein-2 gene(LAMP-2).This mutation causes a deficiency of the LAMP2 protein,which leads to glycogen accumulation mainly in the brain,muscle,and cardiac cells.Thus,it is a glycogen storage disease mainly characterized by cardiomyopathy,skeletal myopathy,and mental retardation.Other infrequent manifestations contain retinal disease,hepatic disease,and pulmonary disease.This is an important documentation of a boy with de novo Danon disease clearly associated with cardiomyopathy and visual disorder.
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