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Article

Danon disease due to a novel splice mutation in the LAMP2 gene.

Muscle & nerve - 1 Mar 2008

Nadeau Amelie, Therrien Christian, Karpati George, Sinnreich Michael

Abstract excerpt

Danon disease is a rare X-linked dominant disorder caused by lysosomal-associated membrane protein 2 (LAMP2) deficiency and is characterized by hypertrophic cardiomyopathy, cardiac conduction abnormalities, skeletal vacuolar myopathy, variable degree of mental retardation, and peripheral pigmentary retinopathy. We describe a novel splice mutation in the LAMP2 gene in a French Canadian family. By identifying this...

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Source

Identifiers

PMID: 18004770
DOI: 10.1002/mus.20930

Genes

LAMP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Danon disease due to a novel splice mutation in the LAMP2 gene.PMID 18004770Read ↗

Novel LAMP-2 Mutation in a Family With Danon Disease Presenting With Hypertrophic CardiomyopathySemantic proximity Read ↗

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

Danon Disease: Understanding the Role of LAMP2 Variants in Cardiomyopathy and Multisystemic Involvement.Semantic proximity Read ↗

A new phenotype of severe dilated cardiomyopathy associated with a mutation in the LAMP2 gene previously known to cause hypertrophic cardiomyopathy in the context of Danon disease.Semantic proximity Read ↗

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

The c.65-2A>G splice site mutation is associated with a mild phenotype in Danon disease due to the transcription of normal LAMP2 mRNA.Semantic proximity Read ↗

Novel LAMP2 mutations in Chinese patients with Danon disease cause varying degrees of clinical severity.Semantic proximity Read ↗

Identification and functional analysis of a novel de novo missense mutation located in the initiation codon of LAMP2 associated with early onset female 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 ↗

A Pathogenic LAMP2 Non-Canonical Splice Site Mutation Caused Danon Disease Requiring Heart Transplantation.Semantic proximity Read ↗

Identification of a novel splicing-altering LAMP2 variant in a Chinese family with Danon disease.Semantic proximity Read ↗

Identification of LAMP2 Mutations in Early-Onset Danon Disease With Hypertrophic Cardiomyopathy by Targeted Next-Generation Sequencing.Semantic proximity Read ↗

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