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A novel LAMP2 p.G93R mutation associated with mild Danon disease presenting with familial hypertrophic cardiomyopathy
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 proband with...
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| I publikationen: | Mol Genet Genomic Med |
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| Huvudupphovsmän: | , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
John Wiley and Sons Inc.
2019
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6785429/ https://ncbi.nlm.nih.gov/pubmed/31464081 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.941 |
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