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Ann Neurol. 1999 Jun;45(6):693-4.
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.
Triepels RH,
van den Heuvel LP,
Loeffen JL,
Buskens CA,
Smeets RJ,
Rubio Gozalbo ME,
Budde SM,
Mariman EC,
Wijburg FA,
Barth PG,
Trijbels JM,
Smeitink JA.
Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Children's Hospital, The Netherlands.
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.
PMID: 10360771 [PubMed - indexed for MEDLINE]
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Cited by 5 PubMed Central articles
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Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.
Sugiana C, Pagliarini DJ, McKenzie M, Kirby DM, Salemi R, Abu-Amero KK, Dahl HH, Hutchison WM, Vascotto KA, Smith SM, et al.
Am J Hum Genet. 2008 Oct; 83(4):468-78.
[Am J Hum Genet. 2008]
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NDUFA2 complex I mutation leads to Leigh disease.
Hoefs SJ, Dieteren CE, Distelmaier F, Janssen RJ, Epplen A, Swarts HG, Forkink M, Rodenburg RJ, Nijtmans LG, Willems PH, et al.
Am J Hum Genet. 2008 Jun; 82(6):1306-15.
[Am J Hum Genet. 2008]
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A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.
Ogilvie I, Kennaway NG, Shoubridge EA.
J Clin Invest. 2005 Oct; 115(10):2784-92.
[J Clin Invest. 2005]
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