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 › Missense_nonsense-44_Mutations
Retinopathy in Danon disease.
Schorderet DF et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2007
Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease).
Lobrinus JA et al.
Neuromuscular Disorders : Nmd, 2005
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