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Article

Danon disease. A novel mutation in the LAMP-2 gene and ophthalmic abnormality.

Herz - 1 Nov 2014

He J, Wang Y, Jiang T

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Share to Adolescent
Share to Diagnosis, Differential
Share to Genetic Predisposition to Disease
Share to Lysosomal-Associated Membrane Protein 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Polymorphism, Single Nucleotide

Share to Vision Disorders

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Identifiers

PMID: 23955649
DOI: 10.1007/s00059-013-3900-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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Danon disease. A novel mutation in the LAMP-2 gene and ophthalmic abnormality.PMID 23955649Read ↗

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Danon disease due to a novel splice mutation in the LAMP2 gene.Semantic proximity Read ↗

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

Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutationSemantic proximity Read ↗

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

A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing.Semantic proximity Read ↗

Retinal dystrophy associated with Danon disease and pathogenic mechanism through LAMP2-mutated retinal pigment epitheliumSemantic proximity Read ↗

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

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

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