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Response to immunotherapy in a patient with adult onset Leigh syndrome and T9176C mtDNA mutation
Leigh syndrome is a mitochondrial disease caused by mutations in different genes, including ATP6A for which no known therapy is available. We report a case of adult-onset Leigh syndrome with response to immunotherapy. A twenty year-old woman with baseline learning difficulties was admitted with prog...
Enregistré dans:
| Publié dans: | Mol Genet Metab Rep |
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| Auteurs principaux: | , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Elsevier
2016
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4932611/ https://ncbi.nlm.nih.gov/pubmed/27408822 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2016.06.004 |
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