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Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I
R H Triepels1, L P van den Heuvel, J L Loeffen
1Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Children's Hospital, The Netherlands.
Annals of Neurology
|June 9, 1999
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.