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Article

Long survival in patients with leigh syndrome and the m.10191T>C mutation in MT-ND3 : a case report and review of the literature.

Journal of child neurology - 1 Oct 2014

Levy Rebecca J, Ríos Purificación Gutierrez, Akman Hasan O, Sciacco Monica, Vivo Darryl C De, DiMauro Salvatore

Abstract excerpt

We report an unusual case 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 survived to early adulthood because of a strict dietary regimen and parental care. This patient is an extreme example of the...

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Electron Transport Complex I
Leigh Disease
Mutation
Phenotype

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 24284231
DOI: 10.1177/0883073813506783
PMCID: PMC4035473

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