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J Med Genet 2001;38:109-113 ( February )

Letters to the editor

Mutations in SURF1 are not specifically associated with Leigh syndrome

The first 150 words of the full text of this article appear below.

EDITOR---Isolated cytochrome c oxidase (COX) deficiency is one of the most frequent causes of respiratory chain defects in humans1 and results in a variety of clinical manifestations including Leigh syndrome (LS), hepatic failure, and encephalomyopathy.2-4 COX, the terminal complex of the mitochondrial respiratory chain, is composed of 13 subunits, three of them being encoded by mitochondrial DNA genes. Nuclear genes encode the 10 other subunits. However, a much larger number of proteins of nuclear origin are required for the correct assembly and function of COX. More than 30 different genetic complementation groups for COX assembly have been isolated in yeast.5 Somatic cell genetic studies have shown that most cases of LS associated with COX deficiency belong to one complementation group.6 7 The gene defect in this group was mapped to chromosome 9q34 and analysis of a candidate gene (SURF1) showed several mutations, all of which predict a truncated protein.2 8

While . . . [Full text of this article]


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