Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I

R. H. Triepels; L. P. Van Den Heuvel; J. L.C.M. Loeffen; C. A.F. Buskens; R. J.P. Smeets; M. E. Rubio Gozalbo; S. M.S. Budde; E. C. Mariman; F. A. Wijburg; P. G. Barth; J. M.F. Trijbels; J. A.M. Smeitink

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Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I

Annals of Neurology (1999) 45(6) 787-790

DOI: 10.1002/1531-8249(199906)45:6<787::AID-ANA13>3.0.CO;2-6

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Abstract

Leigh syndrome is the phenotypical expression of a genetically heterogeneous cluster of disorders, with pyruvate dehydrogenase complex deficiency and respiratory chain disorders as the main biochemical causes. We report the first missense mutation within the nuclear encoded complex I subunit, NDUFS7, in 2 siblings with nenropathologically proven complex I- deficient Leigh syndrome.

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Triepels, R. H., Van Den Heuvel, L. P., Loeffen, J. L. C. M., Buskens, C. A. F., Smeets, R. J. P., Rubio Gozalbo, M. E., … Smeitink, J. A. M. (1999). Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. Annals of Neurology, 45(6), 787–790. https://doi.org/10.1002/1531-8249(199906)45:6<787::AID-ANA13>3.0.CO;2-6

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I

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