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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2023
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| Materias: | |
| 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 |