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Article

Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics.

Journal of inherited metabolic disease - 1 Jan 2014

Majer Filip, Pelak Ondrej, Kalina Tomas, Vlaskova Hana, Dvorakova Lenka, Honzik Tomas, Palecek Tomas, Kuchynka Petr, Masek Martin, Zeman Jiri, Elleder Milan, Sikora Jakub

Abstract excerpt

Alu-mediated tandem duplication of exons 4 and 5 (g.15815_22218dup6404) is a novel mutation that has been detected in the LAMP2 gene (Xq24). This exon copy number variation was found in two brothers with the typical phenotype of Danon disease, including characteristic myocardial changes on magnet...

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Source

Identifiers

PMID: 23716275
DOI: 10.1007/s10545-013-9617-z

Genes

LAMP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23716275-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics.PMID 23716275Read ↗

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