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Article

Danon disease: a phenotypic expression of LAMP-2 deficiency.

Acta neuropathologica - 1 Mar 2015

Endo Yukari, Furuta Akiko, Nishino Ichizo

Abstract excerpt

Danon disease is an X-linked disorder clinically characterized by the triad of hypertrophic cardiomyopathy, myopathy, and intellectual disability. Cardiomyopathy is a severe and life-threatening problem, for which cardiac transplantation is the only therapeutic option. The most striking finding in muscle biopsy samples is small basophilic granules scattered in myofibers, which are in fact small autophagic...

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Source

Identifiers

PMID: 25589223
DOI: 10.1007/s00401-015-1385-4

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.

Related research

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Danon disease: a phenotypic expression of LAMP-2 deficiency.PMID 25589223Read ↗

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Malignant cardiac phenotypic expression of Danon disease (LAMP2 cardiomyopathy).Semantic proximity Read ↗

Danon disease: focusing on heart.Semantic proximity Read ↗

Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease.Semantic proximity Read ↗

Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report.Semantic proximity Read ↗

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Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease.Semantic 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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