Article
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.
Nature genetics - 1 Dec 1998
Zhu Z, Yao J, Johns T, Fu K, De Bie I, Macmillan C, Cuthbert A P, Newbold R F, Wang J, Chevrette M, Brown G K, Brown R M, Shoubridge E A
Abstract excerpt
Leigh Syndrome (LS) is a severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions that is commonly associated with systemic cytochrome c oxidase (COX) deficiency. COX deficiency is an autosomal recessive trait and most patients belong to a single genetic complementation group. DNA sequence analysis of the genes encoding the structural subunits of the COX...
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