Associated Papers
A novel frameshift variant in LAMP2 gene mimicking choroideremia carrier retinopathy.
Narayan A et al.
Ophthalmic Genetics, 2024
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
A Nationwide Survey on Danon Disease in Japan.
Sugie K et al.
International Journal of Molecular Sciences, 2018
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
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).
Nishino I et al.
Nature, 2000
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