Publication: A rare and fatal cause of hypertrophic cardiomyopathy: Danon disease
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Date
2023-01-05
Authors
Türkmen, Hasan
Uysal, Fahrettin
Bostan, Özlem Mehtap
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Journal Title
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Volume Title
Publisher
Cambridge Univ Press
Abstract
Danon disease is a rare and fatal disease caused by a mutation in the lysosome-associated membrane protein 2 gene. Impaired intracellular autophagy causes lysosomal vacuoles to accumulate mainly in myocardial and skeletal muscle cells, leading to hypertrophic cardiomyopathy, skeletal myopathy, and varying degrees of intellectual disability. Two distinct childhood presentations of Danon disease are described in this report.
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Keywords
Danon disease, Hypertrophic cardiomyopathy, Pre-excitation, Heart failure, Science & technology, Life sciences & biomedicine, Cardiac & cardiovascular systems, Pediatrics, Cardiovascular system & cardiology