Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation—Case Report and Review of the Literature

Danon disease is a rare x-linked dominant multisystemic disorder with a clinical triad of severe cardiomyopathy, skeletal myopathy, and intellectual disability. It is caused by defects in the lysosome-associated membrane protein-2 (LAMP2) gene. Numerous different mutations in the LAMP2 protein have...

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Detalles Bibliográficos
Autores principales: Shalata, Adel, Bar-Shai, Marina, Hadid, Yarin, Mahroum, Muhammad, Mintz, Hila, Shalata, Zaher Eldin, Radzishevsky, Evgeny, Genizi, Jacob, Lorber, Avraham, Ben-Yosef, Tamar, Yaniv, Liat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454823/
https://www.ncbi.nlm.nih.gov/pubmed/37628591
http://dx.doi.org/10.3390/genes14081539

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454823/
https://www.ncbi.nlm.nih.gov/pubmed/37628591
http://dx.doi.org/10.3390/genes14081539

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