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_insertions-_15_mutations
Danon disease: a case report and literature review.
Xu J et al.
Diagnostic Pathology, 2021
Autophagy dysregulation in Danon disease.
Nascimbeni AC et al.
Cell Death & Disease, 2017
28102838 (PubMed )
Supplement: cddis2016475x2.pdf
Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy.
Dougu N et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2009
Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease.
Fanin M et al.
The American Journal of Pathology, 2006
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