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 Frequent Observation of Wolff-Parkinson-White Syndrome and Fasciculoventricular Pathways in Patients With Danon Disease.
Chen X et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2022
Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy.
Hayashi T et al.
Journal of Human Genetics, 2018
Ischemic stroke due to hypoperfusion in a patient with a previously unrecognized Danon disease.
Marino M et al.
Neuromuscular Disorders : Nmd, 2016
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