Article
Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients.
Journal of medical genetics - 1 Jan 2018
Sofou Kalliopi, de Coo Irenaeus F M, Ostergaard Elsebet, Isohanni Pirjo, Naess Karin, De Meirleir Linda, Tzoulis Charalampos, Uusimaa Johanna, Lönnqvist Tuula, Bindoff Laurence Albert, Tulinius Már, Darin Niklas
Abstract excerpt
BACKGROUND: Leigh syndrome is a phenotypically and genetically heterogeneous mitochondrial disorder. While some genetic defects are associated with well-described phenotypes, phenotype-genotype correlations in Leigh syndrome are not fully explored. OBJECTIVE: We aimed to identify phenotype-genotype correlations in Leigh syndrome in a large cohort of systematically evaluated patients. METHODS: We studied 96...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.