ReviewBiomolecules2024
History and Perspective of LAMP-2 Deficiency (Danon Disease).
Review in Biomolecules, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
9 citing papers in PubMed.
- Review
- Autophagy-Lysosomal Dysfunction as a Converging Mechanism of Cardiomyopathy in Lysosomal Storage Disorders: From Pathobiology to Targeted Therapy.International journal of molecular sciences · 2026Review
- Misdiagnosis of 99mTc-PYP-positive Danon disease as ATTR-CA: a case report and molecular imaging pitfalls.BMC cardiovascular disorders · 2025Article
- Danon disease presenting with atypical non-septal sparing LGE on cardiac MRI: a case report.European heart journal. Case reports · 2025Article
- Article
- Engineering Targeted Gene Delivery Systems for Primary Hereditary Skeletal Myopathies: Current Strategies and Future Perspectives.Biomedicines · 2025Review
- Classification, Diagnosis, and Prognosis of Cardiomyopathy: A Comprehensive Narrative Review.Reviews in cardiovascular medicine · 2025Review
- Putative role of TMEM165 in congenital cardiomyopathies.Frontiers in molecular neuroscience · 2025Review
- Inherited cardiomyopathies: Contemporary genetics for clinical practice.Indian pacing and electrophysiology journalReview
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Danon disease, an X-linked dominant vacuolar cardiomyopathy and skeletal myopathy, is caused by a primary deficiency of lysosome-associated membrane protein-2 (LAMP-2). This disease is one of the autophagy-related muscle diseases. Male patients present with the triad of cardiomyopathy, myopathy, and intellectual disability, while female patients present with cardiomyopathy. The disease's leading cause of death is heart failure, and its prognostic factor is cardiomyopathy. Pathologically, the disease is characterized by the appearance of unique autophagic vacuoles with sarcolemmal features (AVSFs). Twenty-six families have been found to have this disease in Japan. It has been over 40 years since the first report of this disease by Danon et al. and over 20 years since the identification of the causative gene,
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Registered trials
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