Danon disease in a Sardinian family: different aspects of the same mutation—a case report

BACKGROUND: Danon disease (DD) is a rare X-linked disorder due to mutations in the lysosome-associated membrane protein 2 gene. It is characterized by a clinical triad of hypertrophic cardiomyopathy, skeletal myopathy, and a variable degree of intellectual disability. CASE SUMMARY: In this case seri...

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Detalles Bibliográficos
Autores principales: Pasqualucci, Daniele, Maiani, Silvia, Perra, Ferdinando, Cau, Milena, Coiana, Alessandra, Bianco, Paola, Olivotto, Iacopo, Corda, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Case Series
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10202301/
https://www.ncbi.nlm.nih.gov/pubmed/37223322
http://dx.doi.org/10.1093/ehjcr/ytad237

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10202301/
https://www.ncbi.nlm.nih.gov/pubmed/37223322
http://dx.doi.org/10.1093/ehjcr/ytad237

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