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A case report of delayed diagnosis of danon disease: Caused by a newly recognized mutation in the lysosome-associated membrane protein-2 gene
INTRODUCTION: Danon disease is a rare X-linked dominant genetic disorder caused by defects in the lysosome-associated membrane protein 2 (LAMP2) gene. Unless treated, cardiogenic death is the main cause of mortality. This case report describes a 19-year-old man who was diagnosed with Danon disease a...
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| Vydáno v: | Medicine (Baltimore) |
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| Hlavní autoři: | , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Lippincott Williams & Wilkins
2020
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7535637/ https://ncbi.nlm.nih.gov/pubmed/33019488 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000022640 |
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