Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I
RH Triepels, LP Van den Heuvel… - Annals of Neurology …, 1999 - Wiley Online Library
RH Triepels, LP Van den Heuvel, J Loeffen, CAF Buskens, RJP Smeets, ME Rubio Gozalbo…
Annals of Neurology: Official Journal of the American Neurological …, 1999•Wiley Online LibraryLeigh 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 neuropathologically proven complex
I–deficient Leigh syndrome. Ann Neurol 1999; 45: 787–790
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 neuropathologically proven complex
I–deficient Leigh syndrome. Ann Neurol 1999; 45: 787–790
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 neuropathologically proven complex I–deficient Leigh syndrome. Ann Neurol 1999;45:787–790
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