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Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I
Author(s) -
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.,
Budde S. M. S.,
Mariman E. C.,
Wijburg F. A.,
Barth P. G.,
Trijbels J. M. F.,
Smeitink J. A. M.
Publication year - 1999
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(199906)45:6<787::aid-ana13>3.0.co;2-6
Subject(s) - missense mutation , leigh disease , genetics , mutation , protein subunit , biology , phenotype , genetic heterogeneity , gene
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