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

Autor:	Levy RJ; Department of Neurology, Columbia University Medical Center, New York, NY, USA., Ríos PG; Department of Neurology, Columbia University Medical Center, New York, NY, USA., Akman HO; Department of Neurology, Columbia University Medical Center, New York, NY, USA., Sciacco M; Neuromuscular Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre, University of Milan, 20122 Milan, Italy., Vivo DC; Department of Neurology, Columbia University Medical Center, New York, NY, USA., DiMauro S; Department of Neurology, Columbia University Medical Center, New York, NY, USA sd12@columbia.edu.
Jazyk:	angličtina
Zdroj:	Journal of child neurology [J Child Neurol] 2014 Oct; Vol. 29 (10), pp. NP105-10. Date of Electronic Publication: 2013 Nov 27.
DOI:	10.1177/0883073813506783
Abstrakt:	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. (© The Author(s) 2013.)
Databáze:	MEDLINE
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