References

These sources were used to develop the Genetics Home Reference condition summary on Leigh syndrome.

Finsterer J. Leigh and Leigh-like syndrome in children and adults. Pediatr Neurol. 2008 Oct;39(4):223-35. doi: 10.1016/j.pediatrneurol.2008.07.013. Review. PubMed citation
Gene Review: Mitochondrial DNA-Associated Leigh Syndrome and NARP
Pecina P, Capková M, Chowdhury SK, Drahota Z, Dubot A, Vojtísková A, Hansíková H, Houst'ková H, Zeman J, Godinot C, Houstek J. Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome. Biochim Biophys Acta. 2003 Sep 1;1639(1):53-63. PubMed citation
Péquignot MO, Dey R, Zeviani M, Tiranti V, Godinot C, Poyau A, Sue C, Di Mauro S, Abitbol M, Marsac C. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency. Hum Mutat. 2001 May;17(5):374-81. PubMed citation
Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol. 1996 Mar;39(3):343-51. PubMed citation
Sgarbi G, Baracca A, Lenaz G, Valentino LM, Carelli V, Solaini G. Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA. Biochem J. 2006 May 1;395(3):493-500. PubMed citation
Uziel G, Moroni I, Lamantea E, Fratta GM, Ciceri E, Carrara F, Zeviani M. Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families. J Neurol Neurosurg Psychiatry. 1997 Jul;63(1):16-22. PubMed citation
Yao J, Shoubridge EA. Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency. Hum Mol Genet. 1999 Dec;8(13):2541-9. PubMed citation


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