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Article

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

Pediatric transplantation - 1 Mar 2008

Bui Yen K, Renella Pierangelo, Martinez-Agosto Julian A, Verity Anthony, Madikians Andranik, Alejos Juan C

Abstract excerpt

We report a case of a 16-yr-old male with Danon disease caused by a novel mutation in the LAMP-2 gene. Mutations in the LAMP-2 gene result in the absence of LAMP-2 on immunohistochemical staining of muscle tissue, thus defining Danon disease, a rare X-linked myopathy. It is characterized clinically by HCM or left ventricular hypertrophy, a WPW pattern on ECG, variable degrees of muscular weakness (skeletal...

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Identifiers

PMID: 18282207
DOI: 10.1111/j.1399-3046.2007.00874.x

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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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