Article
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.
Annals of neurology - 1 Jun 1999
Triepels R H, van den Heuvel L P, Loeffen J L, Buskens C A, Smeets R J, Rubio Gozalbo M E, Budde S M, Mariman E C, Wijburg F A, Barth P G, Trijbels J M, Smeitink J A
Abstract excerpt
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.
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