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Article

Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation.

Neuropediatrics - 1 Oct 2005

Bertini E, Donati M A, Broda P, Cassandrini D, Petrini S, Dionisi-Vici C, Ballerini L, Boldrini R, D'Amico A, Pasquini E, Minetti C, Santorelli F M, Bruno C

Abstract excerpt

Danon disease, an X-linked cardioskeletal myopathy caused by primary deficiency of lysosome-associated membrane protein-2 (LAMP-2), is clinically characterized by cardiomyopathy, myopathy, and variable mental retardation. The pathological hallmark of the disease is the absence of LAMP-2 immunohis...

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PMID: 16217705
DOI: 10.1055/s-2005-872844

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16217705-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation.PMID 16217705Read ↗

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