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Ann Neurol. 2016 Feb;79(2):190-203. doi: 10.1002/ana.24551. Epub 2015 Dec 15.

Leigh syndrome: One disorder, more than 75 monogenic causes.

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Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
Mitochondrial Research Group, Genetics and Genomic Medicine, Institute of Child Health, University College London and Metabolic Unit, Great Ormond Street Hospital, London, United Kingdom.
Victorian Clinical Genetic Services, Royal Children's Hospital, Melbourne, Victoria, Australia.


Leigh syndrome is the most common pediatric presentation of mitochondrial disease. This neurodegenerative disorder is genetically heterogeneous, and to date pathogenic mutations in >75 genes have been identified, encoded by 2 genomes (mitochondrial and nuclear). More than one-third of these disease genes have been characterized in the past 5 years alone, reflecting the significant advances made in understanding its etiological basis. We review the diverse biochemical and genetic etiology of Leigh syndrome and associated clinical, neuroradiological, and metabolic features that can provide clues for diagnosis. We discuss the emergence of genotype-phenotype correlations, insights gleaned into the molecular basis of disease, and available therapeutic options.

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