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Long Survival in Patients with Leigh Syndrome and the m.10191T>C Mutation in MT-ND3: A Case Report and Review of the Literature
We report an unusual case history of Leigh syndrome due to the m.10191T>C mutation in the complex I gene MT-ND3. This mutation has been associated with a spectrum of clinical phenotypes ranging from infant lethality to adult onset. Despite infantile onset and severe symptoms, our patient has surv...
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Main Authors: | , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
2013
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4035473/ https://ncbi.nlm.nih.gov/pubmed/24284231 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0883073813506783 |
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