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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Levy, Rebecca J., Ríos, Purificación Gutierrez, Akman, Hasan O., Sciacco, Monica, De Vivo, Darryl C., DiMauro, Salvatore
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2013
Pynciau:
Mynediad Ar-lein: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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