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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...

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Detalles Bibliográficos
Publicado en:Mol Genet Metab Rep
Autores principales: Chuquilin, Miguel, Govindarajan, Raghav, Peck, Dawn, Font-Montgomery, Esperanza
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2016
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Acceso en línea: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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