Ontology highlight
ABSTRACT:
SUBMITTER: Levy RJ
PROVIDER: S-EPMC4035473 | biostudies-literature | 2014 Oct
REPOSITORIES: biostudies-literature
Levy Rebecca J RJ Ríos Purificación Gutierrez PG Akman Hasan O HO Sciacco Monica M Vivo Darryl C De DC DiMauro Salvatore S
Journal of child neurology 20131127 10
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 frequently prolonged course of Leigh syndrome due to this particular mutation. ...[more]