Overview

Danon's disease


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An X-linked dominant disorder (vacuolar cardiomyopathy and myopathy, X-linked lysosomal glycogen storage disease without acid maltase deficiency, glycogen storage cardiomyopathy, pseudoglycogenosis II, Antopol disease; glycogen storage disease IIb) predominantly affecting cardiac muscle with variable myopathy and mental retardation. It is a lysosomal storage disease with characteristic intracytoplasmic vacuoles containing autophagic material and glycogen in skeletal and cardiac muscle. The defect is in LAMP-2, a lysosomal membrane structural protein, not an enzyme.

Subjects: Medicine and Health.


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