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Article

Danon disease: a novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression.

Neuromuscular disorders : NMD - 1 Dec 2008

Di Blasi Claudia, Jarre Laura, Blasevich Flavia, Dassi Patrizia, Mora Marina

Abstract excerpt

LAMP2, the causative gene of Danon disease, located on chromosome Xq24, encodes the lysosome-associated membrane protein-2 (LAMP-2). We describe clinical features and molecular data in an Italian patient with Danon disease. The patient had hyperCKemia, hypertrophic cardiomyopathy, no muscle weakness and slight mental impairment. Muscle biopsy revealed autophagic vacuoles with sarcolemmal features and glycogen...

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Source

Identifiers

PMID: 18990578
DOI: 10.1016/j.nmd.2008.09.008

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.

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