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Heterogeneity in a large pedigree with Danon disease: Implications for pathogenesis and management
BACKGROUND: Danon disease is an X-linked disturbance of autophagy manifesting with cognitive impairment and disordered heart and skeletal muscle. After a period of relative stability, patients deteriorate rapidly and may quickly become ineligible for elective heart transplantation - the only life-sa...
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| Publicado no: | Mol Genet Metab |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6588538/ https://ncbi.nlm.nih.gov/pubmed/28822614 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2017.06.008 |
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