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

Danon Disease: Entire <i>LAMP2</i> 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 (<i>LAMP2</i>) gene. Numerous different mutations in the...

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Bibliographic Details
Main Authors: Adel Shalata, Marina Bar-Shai, Yarin Hadid, Muhammad Mahroum, Hila Mintz, Zaher Eldin Shalata, Evgeny Radzishevsky, Jacob Genizi, Avraham Lorber, Tamar Ben-Yosef, Liat Yaniv
Format: Article
Language:English
Published: MDPI AG 2023-07-01
Series:Genes
Subjects:
Danon disease
<i>LAMP2</i>-gene
genotype-phenotype correlation
penetrance
microdeletion
whole-exome-sequence
Online Access:https://www.mdpi.com/2073-4425/14/8/1539

Internet

https://www.mdpi.com/2073-4425/14/8/1539

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