title: Long survival in patients with leigh syndrome and the m.10191T>C mutation in MT-ND3 : a case report and review of the literature.
abstract: 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.
authors.affiliation: Department of Neurology, Columbia University Medical Center, New York, NY, USA.
authors.forename: Rebecca J
authors.initials: RJ
authors.lastname: Levy
authors.affiliation: Department of Neurology, Columbia University Medical Center, New York, NY, USA.
authors.forename: Purificación Gutierrez
authors.initials: PG
authors.lastname: Ríos
authors.affiliation: Department of Neurology, Columbia University Medical Center, New York, NY, USA.
authors.forename: Hasan O
authors.initials: HO
authors.lastname: Akman
authors.affiliation: Neuromuscular Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre, University of Milan, 20122 Milan, Italy.
authors.forename: Monica
authors.initials: M
authors.lastname: Sciacco
authors.affiliation: Department of Neurology, Columbia University Medical Center, New York, NY, USA.
authors.forename: Darryl C De
authors.initials: DC
authors.lastname: Vivo
authors.affiliation: Department of Neurology, Columbia University Medical Center, New York, NY, USA sd12@columbia.edu.
authors.forename: Salvatore
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D000328:Adult; D042967:Electron Transport Complex I / Q000235:genetics*; D005260:Female; D006801:Humans; D007888:Leigh Disease / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D009154:Mutation; D010641:Phenotype
chemical_list: D042967:Electron Transport Complex I; C114961:MT-ND3 protein, human
keywords: Leigh syndrome; ND3; complex I deficiency; m.10191T>C; mitochondria