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A multicenter study on Leigh syndrome: disease course and predictors of survival.

Journal article
Authors Kalliopi Sofou
Irenaeus F M De Coo
Pirjo Isohanni
Elsebet Ostergaard
Karin Naess
Linda De Meirleir
Charalampos Tzoulis
Johanna Uusimaa
Isabell B De Angst
Tuula Lönnqvist
Helena Pihko
Katariina Mankinen
Laurence A Bindoff
Mar Tulinius
Niklas Darin
Published in Orphanet journal of rare diseases
Volume 9
Issue 1
Pages 52
ISSN 1750-1172
Publication year 2014
Published at Institute of Clinical Sciences, Department of Pediatrics
Pages 52
Language en
Links dx.doi.org/10.1186/1750-1172-9-52
https://gup.ub.gu.se/file/130299
Subject categories Pediatrics

Abstract

Leigh syndrome is a progressive neurodegenerative disorder, associated with primary or secondary dysfunction of the mitochondrial oxidative phosphorylation. Despite the fact that Leigh syndrome is the most common phenotype of mitochondrial disorders in children, longitudinal natural history data is missing. This study was undertaken to assess the phenotypic and genotypic spectrum of patients with Leigh syndrome, characterise the clinical course and identify predictors of survival in a large cohort of patients.

Page Manager: Webmaster|Last update: 9/11/2012
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