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Article

Danon disease: focusing on heart.

Journal of human genetics - 1 Jul 2012

Cheng Zhongwei, Fang Quan

Abstract excerpt

Danon disease is a rare X-linked dominant lysosomal disease due to the primary deficiency of lysosome-associated membrane protein 2 (LAMP2) gene. Cardiomyopathy, skeletal myopathy and mental retardation are the typical triad of Danon disease. More than 60 LAMP2 mutations have been reported. The molecular mechanism is defects in LAMP2 protein (due to LAMP2 mutation) which causes insidious glycogen accumulation in...

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Source

Identifiers

PMID: 22695892
DOI: 10.1038/jhg.2012.72

Genes

LAMP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Danon disease: focusing on heart.PMID 22695892Read ↗

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A Rare Cause of Cardiac Hypertrophy: Danon DiseaseSemantic proximity Read ↗

Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation.Semantic proximity Read ↗

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