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Leigh disease due to SCO2 mutations revealed at extended autopsy

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  • Handling editor Cheok Soon Lee

  • Contributors TSD: western blot designed and analysis. AK-W: western blot designed and analysis. DP-A: molecular study. EJ: MRI analysis and photo. KI-P: phoniatric diagnosis of the patients; preparing the manuscript for the submission. DR: paediatric care and diagnosis of the patients. MP: designed the study; histopathological assessment of the studied specimens.

  • Funding The work was supported by the grants from the Ministry of Science and Higher Education no 0751/B/P01/2009/37, no 1154/B/PO1/2011/40 and the EU Structural Funds, project POIG.02.01.00-14-059/09.

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval The Ethical Committee of the Children's Memorial Health Institute.

  • Provenance and peer review Not commissioned; externally peer reviewed.