Associated Papers
Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation-Case Report and Review of the Literature.
Shalata A et al.
Genes, 2023
37628591 (PubMed )
Supplement: genes-14-01539-s001.zip › genes-2456230-supplementary › Supplementary_FIGURE_and_LAMP2_MUTATIONS_EXCEL_FILES › Table_S1-HGMD_LAMP2_gene_mutations.xlsx › Small_deletions-36_mutations
A Case Study and Literature Review of the Diagnosis of Danon Disease in Patients Presenting Only with Severe Cardiac Symptoms.
Sun YQ et al.
Pharmacogenomics and Personalized Medicine, 2023
The Value of Cardiac Magnetic Resonance Imaging in Identification of Rare Diseases Mimicking Hypertrophic Cardiomyopathy.
Fang T et al.
Journal of Clinical Medicine, 2021
Cardiac Phenotype Characterization at MRI in Patients with Danon Disease: A Retrospective Multicenter Case Series.
Wei X et al.
Radiology, 2021
[Pathological diagnosis of Danon disease by endomyocardial biopsy].
Li Q et al.
Zhonghua Bing Li Xue Za Zhi = Chinese Journal of Pathology, 2020
Clinical features and cardiovascular magnetic resonance characteristics in Danon disease.
He J et al.
Clinical Radiology, 2020
A rare phenotype of heterozygous Danon disease mimicking apical hypertrophic cardiomyopathy.
Yu L et al.
European Heart Journal, 2018
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S1A
Identification of LAMP2 Mutations in Early-Onset Danon Disease With Hypertrophic Cardiomyopathy by Targeted Next-Generation Sequencing.
Fu L et al.
The American Journal of Cardiology, 2016
Early onset cardiomyopathy in females with Danon disease.
Hedberg Oldfors C et al.
Neuromuscular Disorders : Nmd, 2015
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