Associated Papers
Danon disease: From genetic origins and molecular defects to therapeutic advances.
Chaudhary R et al.
Disease-a-month : Dm, 2025
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 › Missense_nonsense-44_Mutations
Danon disease: a case report and literature review.
Xu J et al.
Diagnostic Pathology, 2021
A novel LAMP2 p.G93R mutation associated with mild Danon disease presenting with familial hypertrophic cardiomyopathy.
Xu J et al.
Molecular Genetics & Genomic Medicine, 2019
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_
Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene.
Musumeci O et al.
Neuromuscular Disorders : Nmd, 2005
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