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American Academy of Neurology (AAN), Neurology, 10(62), p. 1899-1901

DOI: 10.1212/01.wnl.0000125251.56131.65

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Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations

Journal article published in 2004 by Vincent Procaccio ORCID, Douglas C. Wallace
This paper is available in a repository.
This paper is available in a repository.

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Abstract

Analysis of the complex I NDUFS8 gene from Leigh syndrome patients with isolated complex I deficiency revealed that one patient with late-onset disease and partial complex I defect was a compound heterozygote for two novel mutations in NDUFS8 gene. Western blot analysis revealed a deficiency in the NDUFS8 polypeptide, but also reductions in other nuclear subunits of complex I, suggesting that this subunit is essential for either the assembly or stability of complex I.