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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Cambridge Univ Press

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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

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