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
New deletion in LAMP2 causing familial Danon disease. Effect of the X-chromosome inactivation.
Sivitskaya L et al.
Folia Medica, 2022
Danon disease: a case report and literature review.
Xu J et al.
Diagnostic Pathology, 2021
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
33925963 (PubMed )
Supplement: ijms-22-04514-s001.zip › Supplementary_File_Table_S2.pdf
Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene.
Meinert M et al.
Ophthalmic Genetics, 2019
A family with Danon disease caused by a splice site mutation in LAMP2 that generates a truncated protein.
Zhou N et al.
Molecular Genetics & Genomic Medicine, 2019
Detection of somatic and germline mosaicism for the LAMP2 gene mutation c.808dupG in a Chinese family with Danon disease.
Chen XL et al.
Gene, 2012
[Analysis of gene mutation in a Chinese family with Norrie disease].
Zhang TX et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2012
Danon disease as a cause of concentric left ventricular hypertrophy in patients who underwent endomyocardial biopsy.
Cheng Z et al.
European Heart Journal, 2012
Select a paper to view details