ArticleInternational journal of molecular sciences2018
A Nationwide Survey on Danon Disease in Japan.
Article in International journal of molecular sciences, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.
- Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Danon disease: Two case reports and literature review.Medicine · 2026Review
- Case Report: A typical triad of Danon disease caused by a LAMP2 splice-donor variant with multilevel functional validation.Frontiers in cardiovascular medicine · 2026Article
- Danon Disease: Understanding the Role of LAMP2 Variants in Cardiomyopathy and Multisystemic Involvement.Arquivos brasileiros de cardiologia · 2026Review
- Rat models of musculoskeletal lysosomal storage disorders and their role in pre-clinical evaluation of gene therapy approaches.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Review
- An International Longitudinal Natural History Study of Patients With Danon Disease: Unique Cardiac Trajectories Identified Based on Sex and Heart Failure Outcomes.Journal of the American Heart Association · 2025Observational
- Danon Disease Presenting with Slowly Progressive Cardiomyopathy and Harboring a Novel Missense Variant in the Lysosome-associated Membrane Protein Type 2 (LAMP-2) Gene.Internal medicine (Tokyo, Japan) · 2025Article
- Cardiovascular Computed Tomography and Magnetic Resonance Imaging Guideline of the Brazilian Society of Cardiology and the Brazilian College of Radiology - 2024.Arquivos brasileiros de cardiologia · 2024Article
- History and Perspective of LAMP-2 Deficiency (Danon Disease).Biomolecules · 2024Review
- 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.Molecular genetics & genomic medicine · 2023Article
- A Case Study and Literature Review of the Diagnosis of Danon Disease in Patients Presenting Only with Severe Cardiac Symptoms.Pharmacogenomics and personalized medicine · 2023Article
- Cardiovascular magnetic resonance findings in Danon disease: a case series of a family.Frontiers in cardiovascular medicine · 2023Article
- Clinical and molecular characterization of seven patients with Danon disease.Experimental and therapeutic medicine · 2021Article
- Routine Outpatient Electrocardiogram: What Is the Diagnosis?Texas Heart Institute journal · 2021Article
- Article
- The Lysosomal Membrane Protein Lamp2 Alleviates Lysosomal Cell Death by Promoting Autophagic Flux in Ischemic Cardiomyocytes.Frontiers in cell and developmental biology · 2020Article
- Deposit Diseases as Differential Diagnosis of Left Ventricular Hypertrophy in Patients with Heart Failure and Preserved Systolic Function.Arquivos brasileiros de cardiologia · 2019Review
- A novel LAMP2 p.G93R mutation associated with mild Danon disease presenting with familial hypertrophic cardiomyopathy.Molecular genetics & genomic medicine · 2019Article
- Danon Disease with Internal Carotid Artery Occlusion Showing Good Clinical Outcome Due to Robust Collaterals.Annals of Indian Academy of NeurologyArticle
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
Abstract
Danon disease, an X-linked dominant cardioskeletal myopathy, is caused by primary deficiency of lysosome-associated membrane protein-2 (LAMP-2). To clarify the clinicopathological features and management, we performed the first nationwide, questionnaire-based survey on Danon disease in Japan. A total of 39 patients (17 males, 22 females) from 20 families were identified in the analysis. All patients had cardiomyopathy. Of the 21 patients who died, 20 (95%) died of cardiac failure or sudden cardiac arrest. Most patients had hypertrophic cardiomyopathy. Wolf⁻Parkinson⁻White syndrome was present at a comparatively high incidence (54% in males, 22% in females). Only one female patient received a heart transplant, which is the most effective therapy. Histopathologically, all male patients showed autophagic vacuoles with sarcolemmal features in muscle. Half of the probands showed de novo mutations. Male patients showed completely absent LAMP-2 expression in muscle. In contrast, female patients showed decreased LAMP-2 expression, which is suggested to reflect LAMP-2 haploinsufficiency due to a heterozygous null mutation. In conclusion, Danon disease is an extremely rare muscular disorder in Japan. Cardiomyopathy is the most significant prognostic factor and the main cause of death. Our findings suggest that the present survey can extend our understanding of the clinical features of this rare disease.
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