A novel LAMP2 p.G93R mutation associated with mild Danon disease presenting with familial hypertrophic cardiomyopathy
Abstract Background Danon disease (DD) is an X‐linked dominant multisystem disorder that is associated with cardiomyopathy, skeletal myopathy, and varying degrees of intellectual disability. It results from mutations in the lysosome‐associated membrane protein 2 (LAMP2) gene. Methods Herein, a proba...
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| Главные авторы: | , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Wiley
2019-10-01
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| Серии: | Molecular Genetics & Genomic Medicine |
| Предметы: | |
| Online-ссылка: | https://doi.org/10.1002/mgg3.941 |
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