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Article

Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study.

ESC heart failure - 1 Oct 2020

Gurka Jiri, Piherova Lenka, Majer Filip, Chaloupka Anna, Zakova Daniela, Pelak Ondrej, Krebsova Alice, Peichl Petr, Krejci Jan, Freiberger Tomas, Melenovsky Vojtech, Kautzner Josef, Kalina Tomas, Sikora Jakub, Kubanek Milos

Abstract excerpt

AIMS: Danon disease (DD) is a rare X-linked disorder caused by mutations in the lysosomal-associated membrane protein type 2 gene (LAMP2). DD is difficult to distinguish from other causes of dilated or hypertrophic cardiomyopathy (HCM) in female patients. As DD female patients regularly progress into advanced heart failure (AHF) aged 20-40 years, their early identification is critical to improve patient survival...

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Source

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Identifiers

PMID: 32657043
DOI: 10.1002/ehf2.12823
PMCID: PMC7524080

Genes

LAMP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study.PMID 32657043Read ↗

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